{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T03:00:22Z","timestamp":1777777222874,"version":"3.51.4"},"reference-count":109,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"am","delay-in-days":390,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100008209","name":"University at Buffalo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008209","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL166283-01"],"award-info":[{"award-number":["R01HL166283-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R56DE028545-01"],"award-info":[{"award-number":["R56DE028545-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL158965-01"],"award-info":[{"award-number":["R01HL158965-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R00HL135258"],"award-info":[{"award-number":["R00HL135258"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Perinatology"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1016\/j.semperi.2023.151729","type":"journal-article","created":{"date-parts":[[2023,3,11]],"date-time":"2023-03-11T19:29:45Z","timestamp":1678562985000},"page":"151729","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development"],"prefix":"10.1016","volume":"47","author":[{"given":"Ziyi","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bonny","family":"Lami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laertis","family":"Ikonomou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingxia","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.semperi.2023.151729_bib0001","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0002","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0003","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/nature05944","article-title":"In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state","volume":"448","author":"Wernig","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.semperi.2023.151729_bib0004","first-page":"e698","article-title":"2018 AHA\/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology\/American Heart Association task force on clinical practice guidelines","volume":"139","author":"Stout","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.semperi.2023.151729_bib0005","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1038\/nature06801","article-title":"The developmental genetics of congenital heart disease","volume":"451","author":"Bruneau","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.semperi.2023.151729_bib0006","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis","volume":"58","author":"van der Linde","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0007","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.semperi.2023.151729_bib0008","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1161\/CIRCRESAHA.116.310253","article-title":"Intracoronary cardiac progenitor cells in single ventricle physiology: the PERSEUS (Cardiac progenitor cell infusion to treat univentricular heart disease) randomized phase 2 trial","volume":"120","author":"Ishigami","year":"2017","journal-title":"Circ Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0009","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1161\/CIRCRESAHA.116.304671","article-title":"Intracoronary autologous cardiac progenitor cell transfer in patients with hypoplastic left heart syndrome: the TICAP prospective phase 1 controlled trial","volume":"116","author":"Ishigami","year":"2015","journal-title":"Circ Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0010","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1056\/NEJMp0707712","article-title":"Knock out, knock in, knock down - Genetically manipulated mice and the Nobel Prize","volume":"357","author":"Manis","year":"2007","journal-title":"N Engl J Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0011","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1126\/science.282.5391.1145","article-title":"Embryonic stem cell lines derived from human blastocysts","volume":"282","author":"Thomson","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.semperi.2023.151729_bib0012","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1093\/stmcls\/sxac040","article-title":"Pluripotent stem cells in clinical setting-new developments and overview of current status","volume":"40","author":"Ilic","year":"2022","journal-title":"Stem Cells"},{"key":"10.1016\/j.semperi.2023.151729_bib0013","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.stem.2020.09.014","article-title":"Pluripotent stem cell-based cell therapy- promise and challenges","volume":"27","author":"Yamanaka","year":"2020","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0014","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1016\/j.jacc.2009.12.068","article-title":"Bicuspid aortic valve disease","volume":"55","author":"Siu","year":"2010","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0015","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1146\/annurev-physiol-022516-034001","article-title":"Developmental mechanisms of aortic valve malformation and disease","volume":"79","author":"Wu","year":"2017","journal-title":"Annu Rev Physiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0016","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41588-018-0265-y","article-title":"ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm","volume":"51","author":"Gould","year":"2019","journal-title":"Nat Genet"},{"key":"10.1016\/j.semperi.2023.151729_bib0017","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1161\/CIRCRESAHA.120.316846","article-title":"To EndoMT or Not to EndoMT: Zebrafish heart valve development","volume":"126","author":"O'Donnell","year":"2020","journal-title":"Circ Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0018","doi-asserted-by":"crossref","first-page":"15481","DOI":"10.1038\/ncomms15481","article-title":"Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve","volume":"8","author":"Yang","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.semperi.2023.151729_bib0019","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1038\/s41467-019-09459-5","article-title":"Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis","volume":"10","author":"Neri","year":"2019","journal-title":"Nat Commun"},{"key":"10.1016\/j.semperi.2023.151729_bib0020","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1016\/j.cell.2015.02.035","article-title":"Human disease modeling reveals integrated transcriptional and epigenetic mechanisms of NOTCH1 haploinsufficiency","volume":"160","author":"Theodoris","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0021","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/0002-9149(91)90251-F","article-title":"Sudden unexpected death in persons less than 40 years of age","volume":"68","author":"Drory","year":"1991","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0022","doi-asserted-by":"crossref","first-page":"3067","DOI":"10.1093\/eurheartj\/ehz710","article-title":"Channelopathies and sudden cardiac death: genetics and pharmacological triggers","volume":"40","author":"Luscher","year":"2019","journal-title":"Eur Heart J"},{"key":"10.1016\/j.semperi.2023.151729_bib0023","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1161\/CIRCRESAHA.118.311209","article-title":"Human induced pluripotent stem cell-derived cardiomyocytes as models for cardiac channelopathies: a primer for non-electrophysiologists","volume":"123","author":"Garg","year":"2018","journal-title":"Circ Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0024","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/bies.201200053","article-title":"Current status of drug screening and disease modelling in human pluripotent stem cells","volume":"35","author":"Rajamohan","year":"2013","journal-title":"Bioessays"},{"key":"10.1016\/j.semperi.2023.151729_bib0025","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1056\/NEJMoa0908679","article-title":"Patient-specific induced pluripotent stem-cell models for long-QT syndrome","volume":"363","author":"Moretti","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0026","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1093\/cvr\/cvs206","article-title":"Disease characterization using LQTS-specific induced pluripotent stem cells","volume":"95","author":"Egashira","year":"2012","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0027","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1085\/jgp.201210899","article-title":"Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics","volume":"141","author":"Terrenoire","year":"2013","journal-title":"J Gen Physiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0028","doi-asserted-by":"crossref","first-page":"5277","DOI":"10.1016\/j.ijcard.2013.08.015","article-title":"Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells","volume":"168","author":"Ma","year":"2013","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0029","first-page":"245","article-title":"Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes","volume":"9","author":"Kuroda","year":"2017","journal-title":"Biochem Biophys Rep"},{"key":"10.1016\/j.semperi.2023.151729_bib0030","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1093\/hmg\/ddx073","article-title":"Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation","volume":"26","author":"Yamamoto","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.semperi.2023.151729_bib0031","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1093\/cvr\/cvx006","article-title":"Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes","volume":"113","author":"Rocchetti","year":"2017","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0032","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1111\/j.1582-4934.2011.01476.x","article-title":"Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to beta-adrenergic stimulation","volume":"16","author":"Novak","year":"2012","journal-title":"J Cell Mol Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0033","doi-asserted-by":"crossref","first-page":"E5383","DOI":"10.1073\/pnas.1419553111","article-title":"Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue","volume":"111","author":"Zhang","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.semperi.2023.151729_bib0034","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1093\/eurheartj\/ehr073","article-title":"Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation","volume":"32","author":"Matsa","year":"2011","journal-title":"Eur Heart J"},{"key":"10.1016\/j.semperi.2023.151729_bib0035","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1126\/science.1227682","article-title":"Medicine. iPSC disease modeling","volume":"338","author":"Soldner","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.semperi.2023.151729_bib0036","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1093\/eurheartj\/ehv572","article-title":"Subcutaneous implantable cardioverter-defibrillator and drug-induced Brugada syndrome: the importance of repeat morphology analysis during ajmaline challenge","volume":"37","author":"Conte","year":"2016","journal-title":"Eur Heart J"},{"key":"10.1016\/j.semperi.2023.151729_bib0037","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1093\/eurheartj\/ehx133","article-title":"Brugada syndrome induced by BRAF and MEK inhibitors in a melanoma patient","volume":"38","author":"Nardin","year":"2017","journal-title":"Eur Heart J"},{"key":"10.1016\/j.semperi.2023.151729_bib0038","doi-asserted-by":"crossref","first-page":"5535","DOI":"10.1038\/ncomms6535","article-title":"Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome","volume":"5","author":"Anderson","year":"2014","journal-title":"Nat Commun"},{"key":"10.1016\/j.semperi.2023.151729_bib0039","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1161\/CIRCULATIONAHA.107.708818","article-title":"Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome","volume":"116","author":"Gong","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.semperi.2023.151729_bib0040","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1093\/eurheartj\/ehx394","article-title":"Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model","volume":"39","author":"Mehta","year":"2018","journal-title":"Eur Heart J"},{"key":"10.1016\/j.semperi.2023.151729_bib0041","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/eurheartj\/ehx561","article-title":"Advancing precision medicine for the treatment of long-QT syndrome type 2: shedding light on lumacaftor","volume":"39","author":"Delisle","year":"2018","journal-title":"Eur Heart J"},{"key":"10.1016\/j.semperi.2023.151729_bib0042","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1002\/stem.2582","article-title":"Wanek program genetics pipeline G. NOTCH1-dependent nitric oxide signaling deficiency in hypoplastic left heart syndrome revealed through patient-specific phenotypes detected in bioengineered cardiogenesis","volume":"35","author":"Hrstka","year":"2017","journal-title":"Stem Cells"},{"key":"10.1016\/j.semperi.2023.151729_bib0043","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1007\/s00439-015-1582-1","article-title":"Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome","volume":"134","author":"Theis","year":"2015","journal-title":"Hum Genet"},{"key":"10.1016\/j.semperi.2023.151729_bib0044","doi-asserted-by":"crossref","first-page":"3031","DOI":"10.1093\/hmg\/ddx140","article-title":"Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis","volume":"26","author":"Yang","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.semperi.2023.151729_bib0045","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0102796","article-title":"Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome","volume":"9","author":"Kobayashi","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.semperi.2023.151729_bib0046","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1152\/physiolgenomics.00091.2016","article-title":"Impact of MYH6 variants in hypoplastic left heart syndrome","volume":"48","author":"Tomita-Mitchell","year":"2016","journal-title":"Physiol Genom"},{"key":"10.1016\/j.semperi.2023.151729_bib0047","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.stem.2020.07.015","article-title":"Intrinsic endocardial defects contribute to hypoplastic left heart syndrome","volume":"27","author":"Miao","year":"2020","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0048","doi-asserted-by":"crossref","DOI":"10.1016\/j.semcdb.2021.03.011","article-title":"Heart organoids and tissue models for modeling development and disease","author":"Miyamoto","year":"2021","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.semperi.2023.151729_bib0049","doi-asserted-by":"crossref","first-page":"3140","DOI":"10.1038\/s41467-018-05604-8","article-title":"Precardiac organoids form two heart fields via Bmp\/Wnt signaling","volume":"9","author":"Andersen","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/j.semperi.2023.151729_bib0050","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.stem.2020.10.013","article-title":"Capturing cardiogenesis in gastruloids","volume":"28","author":"Rossi","year":"2021","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0051","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/s41467-021-25329-5","article-title":"Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease","volume":"12","author":"Lewis-Israeli","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.semperi.2023.151729_bib0052","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/jcp.24683","article-title":"3D cell culture systems: advantages and applications","volume":"230","author":"Ravi","year":"2015","journal-title":"J Cell Physiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0053","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/nbt.2754","article-title":"Efficient generation of lung and airway epithelial cells from human pluripotent stem cells","volume":"32","author":"Huang","year":"2014","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.semperi.2023.151729_bib0054","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.stem.2012.01.019","article-title":"Efficient derivation of purified lung and thyroid progenitors from embryonic stem cells","volume":"10","author":"Longmire","year":"2012","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0055","doi-asserted-by":"crossref","first-page":"25","DOI":"10.7554\/eLife.05098","article-title":"In vitro generation of human pluripotent stem cell derived lung organoids","volume":"4","author":"Dye","year":"2015","journal-title":"eLife"},{"key":"10.1016\/j.semperi.2023.151729_bib0056","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.stem.2017.08.014","article-title":"Differentiation of human pluripotent stem cells into functional lung alveolar epithelial cells","volume":"21","author":"Jacob","year":"2017","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0057","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1038\/s41596-022-00733-3","article-title":"Directed differentiation of human pluripotent stem cells into diverse organ-specific mesenchyme of the digestive and respiratory systems","volume":"17","author":"Kishimoto","year":"2022","journal-title":"Nat Protoc"},{"key":"10.1016\/j.semperi.2023.151729_bib0058","doi-asserted-by":"crossref","unstructured":"Alber A.B., Marquez H.A., Ma L., et al. Directed differentiation of mouse pluripotent stem cells into functional lung-specific mesenchyme. bioRxiv. 2022:2022.2008.2012.502651.","DOI":"10.1101\/2022.08.12.502651"},{"key":"10.1016\/j.semperi.2023.151729_bib0059","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/nmeth.4448","article-title":"Long-term expansion of alveolar stem cells derived from human iPS cells in organoids","volume":"14","author":"Yamamoto","year":"2017","journal-title":"Nat Methods"},{"key":"10.1016\/j.semperi.2023.151729_bib0060","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1016\/j.jcyt.2020.04.001","article-title":"Technological advances in study of lung regenerative medicine: perspective from the 2019 Vermont lung stem cell conference","volume":"22","author":"Ikonomou","year":"2020","journal-title":"Cytotherapy"},{"key":"10.1016\/j.semperi.2023.151729_bib0061","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1089\/ped.2010.2303","article-title":"Interview with the Expert: Claire Langston, M.D","volume":"23","author":"Langston","year":"2010","journal-title":"Pediatr Allergy Immunol Pulmonol"},{"key":"10.1016\/j.semperi.2023.151729_bib0062","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1164\/rccm.200703-393OC","article-title":"Diffuse lung disease in young children - application of a novel classification scheme","volume":"176","author":"Deutsch","year":"2007","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0063","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1172\/JCI117173","article-title":"A mutation in the surfactant protein-B gene responsible for fatal neonatal respiratory-disease in multiple kindreds","volume":"93","author":"Nogee","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1016\/j.semperi.2023.151729_bib0064","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1056\/NEJM200102223440805","article-title":"A mutation in the surfactant protein C gene associated with familial interstitial lung disease","volume":"344","author":"Nogee","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0065","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1056\/NEJMoa032178","article-title":"ABCA3 gene mutations in newborns with fatal surfactant deficiency","volume":"350","author":"Shulenin","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0066","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0022-3476(97)70348-2","article-title":"Lung transplantation for treatment of infants with surfactant protein B deficiency","volume":"130","author":"Hamvas","year":"1997","journal-title":"J Pediatr"},{"key":"10.1016\/j.semperi.2023.151729_bib0067","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1146\/annurev-pathol-012513-104644","article-title":"Diseases of pulmonary surfactant homeostasis","volume":"10","author":"Whitsett","year":"2015","journal-title":"Annu Rev Pathol Mech Dis"},{"key":"10.1016\/j.semperi.2023.151729_bib0068","doi-asserted-by":"crossref","first-page":"L875","DOI":"10.1152\/ajplung.1997.273.4.L875","article-title":"Pulmonary dysfunction in neonatal SP-B-deficient mice","volume":"273","author":"Tokieda","year":"1997","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0069","doi-asserted-by":"crossref","first-page":"6366","DOI":"10.1073\/pnas.101500298","article-title":"Altered stability of pulmonary surfactant in SP-C-deficient mice","volume":"98","author":"Glasser","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.semperi.2023.151729_bib0070","doi-asserted-by":"crossref","first-page":"14291","DOI":"10.1074\/jbc.M210909200","article-title":"Pneumonitis and emphysema in sp-C gene targeted mice","volume":"278","author":"Glasser","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1016\/j.semperi.2023.151729_bib0071","doi-asserted-by":"crossref","first-page":"L543","DOI":"10.1152\/ajplung.00011.2003","article-title":"SP-B deficiency causes respiratory failure in adult mice","volume":"285","author":"Melton","year":"2003","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0072","doi-asserted-by":"crossref","first-page":"L646","DOI":"10.1152\/ajplung.00409.2009","article-title":"Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice","volume":"298","author":"Besnard","year":"2010","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1016\/j.semperi.2023.151729_bib0073","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1089\/hum.2022.130","article-title":"Gene therapeutics for surfactant dysfunction disorders: targeting the alveolar type 2 epithelial cell","volume":"33","author":"Sitaraman","year":"2022","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.semperi.2023.151729_bib0074","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.isci.2022.103797","article-title":"Metabolomic profiling of human pluripotent stem cell differentiation into lung progenitors","volume":"25","author":"Leibel","year":"2022","journal-title":"iScience"},{"key":"10.1016\/j.semperi.2023.151729_bib0075","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41598-019-49696-8","article-title":"Reversal of surfactant protein B deficiency in patient specific human induced pluripotent stem cell derived lung organoids by gene therapy","volume":"9","author":"Leibel","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.semperi.2023.151729_bib0076","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.celrep.2021.109636","article-title":"Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease","volume":"36","author":"Alysandratos","year":"2021","journal-title":"Cell Rep"},{"key":"10.1016\/j.semperi.2023.151729_bib0077","first-page":"4","article-title":"Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations","volume":"53","author":"Yin","year":"2020","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0078","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.stem.2015.09.004","article-title":"Regeneration of thyroid function by transplantation of differentiated pluripotent stem cells","volume":"17","author":"Kurmann","year":"2015","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.semperi.2023.151729_bib0079","doi-asserted-by":"crossref","first-page":"28","DOI":"10.7554\/eLife.64430","article-title":"GSK3 inhibition rescues growth and telomere dysfunction in dyskeratosis congenita iPSC-derived type II alveolar epithelial cells","volume":"11","author":"Fernandez","year":"2022","journal-title":"eLife"},{"key":"10.1016\/j.semperi.2023.151729_bib0080","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/sctm.20-0199","article-title":"Human induced pluripotent stem cell-derived lung organoids in an ex vivo model of the congenital diaphragmatic hernia fetal lung","volume":"10","author":"Kunisaki","year":"2021","journal-title":"Stem Cells Transl Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0081","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.ydbio.2004.04.039","article-title":"Retinoic acid selectively regulates Fgf10 expression and maintains cell identity in the prospective lung field of the developing foregut","volume":"273","author":"Desai","year":"2004","journal-title":"Dev Biol"},{"key":"10.1016\/j.semperi.2023.151729_bib0082","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/s41467-020-14348-3","article-title":"The in vivo genetic program of murine primordial lung epithelial progenitors","volume":"11","author":"Ikonomou","year":"2020","journal-title":"Nat Commun"},{"key":"10.1016\/j.semperi.2023.151729_bib0083","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1042\/CS20080068","article-title":"Thyroid transcription factor-1 (TTF-1\/Nkx2.1\/TITF1) gene regulation in the lung","volume":"116","author":"Boggaram","year":"2009","journal-title":"Clin Sci"},{"key":"10.1016\/j.semperi.2023.151729_bib0084","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1242\/dev.113.4.1093","article-title":"The transcription factor-Ttf-1 Is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the fetal brain","volume":"113","author":"Lazzaro","year":"1991","journal-title":"Development"},{"key":"10.1016\/j.semperi.2023.151729_bib0085","doi-asserted-by":"crossref","first-page":"E1146","DOI":"10.1002\/humu.21183","article-title":"NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in \"Brain-lung-thyroid syndrome''","volume":"31","author":"Guillot","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.semperi.2023.151729_bib0086","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1172\/JCI0214341","article-title":"Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency","volume":"109","author":"Krude","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1016\/j.semperi.2023.151729_bib0087","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1177\/0883073811413584","article-title":"Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation","volume":"27","author":"Ferrara","year":"2012","journal-title":"J Child Neurol"},{"key":"10.1016\/j.semperi.2023.151729_bib0088","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1111\/dmcn.12323","article-title":"Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum","volume":"56","author":"Peall","year":"2014","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.semperi.2023.151729_bib0089","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.ejmg.2018.02.007","article-title":"The brain-lung-thyroid syndrome (BLTS): a novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency","volume":"61","author":"Villafuerte","year":"2018","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.semperi.2023.151729_bib0090","first-page":"34S","article-title":"Altered surfactant protein metabolism due to NK2 homeobox 1 (NKX2-1) mutations cause interstitial lung disease in \"Brain-lung-thyroid syndrome\"","volume":"140","author":"Szinnai","year":"2010","journal-title":"Swiss Med Wkly"},{"key":"10.1016\/j.semperi.2023.151729_bib0091","doi-asserted-by":"crossref","DOI":"10.1186\/1465-9921-12-115","article-title":"Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect","volume":"12","author":"Peca","year":"2011","journal-title":"Respir Res"},{"key":"10.1016\/j.semperi.2023.151729_bib0092","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.rmed.2017.05.014","article-title":"Heterogeneity of lung disease associated with NK2 homeobox 1 mutations","volume":"129","author":"Nattes","year":"2017","journal-title":"Respir Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0093","doi-asserted-by":"crossref","first-page":"F453","DOI":"10.1136\/adc.2009.180448","article-title":"Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis","volume":"96","author":"Kleinlein","year":"2011","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.semperi.2023.151729_bib0094","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1378\/chest.12-2502","article-title":"Heterogeneous pulmonary Phenotypes Associated With mutations in the thyroid transcription factor gene NKX2-1","volume":"144","author":"Hamvas","year":"2013","journal-title":"Chest"},{"key":"10.1016\/j.semperi.2023.151729_bib0095","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1056\/NEJM199804303381817","article-title":"Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure","volume":"338","author":"Devriendt","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0096","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1210\/jc.2008-1402","article-title":"Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1\/NKX2.1 Gene","volume":"94","author":"Maquet","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.semperi.2023.151729_bib0097","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/s00431-004-1559-x","article-title":"Brain-thyroid-lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene","volume":"164","author":"Willemsen","year":"2005","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.semperi.2023.151729_bib0098","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1002\/mds.21135","article-title":"New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes","volume":"21","author":"Devos","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.semperi.2023.151729_bib0099","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.jpeds.2004.04.011","article-title":"Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1","volume":"145","author":"Doyle","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.semperi.2023.151729_bib0100","first-page":"A6725","article-title":"Thyroid transcription factor 1 gene abnormalities: an under recognized cause of childrens interstitial lung disease","volume":"181","author":"Deterding","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0101","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1006\/dbio.1995.8080","article-title":"TTF-1 regulates lung epithelial morphogenesis","volume":"172","author":"Minoo","year":"1995","journal-title":"Dev Biol"},{"key":"10.1016\/j.semperi.2023.151729_bib0102","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1101\/gad.10.1.60","article-title":"The T\/ebp null mouse thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary","volume":"10","author":"Kimura","year":"1996","journal-title":"Genes Dev"},{"key":"10.1016\/j.semperi.2023.151729_bib0103","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1006\/dbio.1999.9234","article-title":"Defects in tracheoesophageal and lung morphogenesis in Nkx2.1(-\/-) mouse embryos","volume":"209","author":"Minoo","year":"1999","journal-title":"Dev Biol"},{"key":"10.1016\/j.semperi.2023.151729_bib0104","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/(SICI)1097-0177(200002)217:2<180::AID-DVDY5>3.0.CO;2-3","article-title":"Inhibition of distal lung morphogenesis in Nkx2.1 (-\/-) embryos","volume":"217","author":"Yuan","year":"2000","journal-title":"Dev Dyn"},{"key":"10.1016\/j.semperi.2023.151729_bib0105","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1164\/rccm.201909-1836OC","article-title":"In vivo generation of lung and thyroid tissues from embryonic stem cells using blastocyst complementation","volume":"203","author":"Wen","year":"2021","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0106","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1164\/rccm.202009-3548ED","article-title":"The coming-of-age of lung generation by blastocyst complementation","volume":"203","author":"Ikonomou","year":"2021","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.semperi.2023.151729_bib0107","series-title":"Engineering translational models of lung homeostasis and disease","article-title":"Multipotent embryonic lung progenitors: foundational units of in vitro and in vivo lung organogenesis","author":"Ikonomou","year":"2023"},{"key":"10.1016\/j.semperi.2023.151729_bib0108","doi-asserted-by":"crossref","first-page":"16351","DOI":"10.1073\/pnas.0507832102","article-title":"Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia","volume":"102","author":"You","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.semperi.2023.151729_bib0109","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.devcel.2012.11.018","article-title":"Roundabout receptors are critical for foregut separation from the body wall","volume":"24","author":"Domyan","year":"2013","journal-title":"Dev Cell"}],"container-title":["Seminars in Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0146000523000320?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0146000523000320?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:49:38Z","timestamp":1777488578000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0146000523000320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":109,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["S0146000523000320"],"URL":"https:\/\/doi.org\/10.1016\/j.semperi.2023.151729","relation":{},"ISSN":["0146-0005"],"issn-type":[{"value":"0146-0005","type":"print"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development","name":"articletitle","label":"Article Title"},{"value":"Seminars in Perinatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.semperi.2023.151729","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"151729"}}