{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T21:12:02Z","timestamp":1789074722747,"version":"build-2803163510"},"reference-count":39,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019274","name":"National Institute of Mental Health and Neurosciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"US Department of War","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015940","name":"PTEN Research","doi-asserted-by":"publisher","award":["BCH-20-001"],"award-info":[{"award-number":["BCH-20-001"]}],"id":[{"id":"10.13039\/100015940","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006823","name":"Boston Children's Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Stem Cell Research"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.scr.2026.104073","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T15:25:07Z","timestamp":1786029907000},"page":"104073","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders"],"prefix":"10.1016","volume":"95","author":[{"given":"Cidi","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wardiya","family":"Afshar-Saber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabela","family":"Iglesias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8237-5951","authenticated-orcid":false,"given":"Becca","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayathri","family":"Srinivasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celeste","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remi","family":"Hirsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Guardado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taryn","family":"Polanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Swanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Norabuena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dosh","family":"Whye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunhui","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chopra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivy","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Iannello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Rozumny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3194-5413","authenticated-orcid":false,"given":"Elizabeth D.","family":"Buttermore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.scr.2026.104073_b0005","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1542\/pir.21.8.265","article-title":"The child behavior checklist and related forms for assessing behavioral\/emotional problems and competencies","volume":"21","author":"Achenbach","year":"2000","journal-title":"Pediatr Rev"},{"key":"10.1016\/j.scr.2026.104073_b0010","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2024.103424","article-title":"Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls","volume":"77","author":"Afshar-Saber","year":"2024","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.scr.2026.104073_b0015","first-page":"19","article-title":"Editorial: advancing neurodevelopmental disorder models with human iPSC and multi-omics integration","author":"Afshar-Saber","year":"2025","journal-title":"Frontiers in Neuroscience"},{"key":"10.1016\/j.scr.2026.104073_b0020","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2025.116664","article-title":"Neuronal hyperactivity becomes mTORC1 independent due to transcriptional changes in tuberous sclerosis complex disease models","volume":"44","author":"Afshar-Saber","year":"2025","journal-title":"Cell Reports"},{"key":"10.1016\/j.scr.2026.104073_b0025","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1016\/j.stemcr.2021.03.025","article-title":"Balancing serendipity and reproducibility: pluripotent stem cells as experimental systems for intellectual and developmental disorders","volume":"16","author":"Anderson","year":"2021","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.scr.2026.104073_b0030","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","article-title":"Search-and-replace genome editing without double-strand breaks or donor DNA","volume":"576","author":"Anzalone","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.scr.2026.104073_b0035","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.scr.2026.104073_b0040","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2021.102276","article-title":"Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)","volume":"53","author":"Chen","year":"2021","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.scr.2026.104073_b0045","doi-asserted-by":"crossref","first-page":"5635","DOI":"10.1016\/j.cell.2021.09.018","article-title":"Enhanced prime editing systems by manipulating cellular determinants of editing outcomes","volume":"184","author":"Chen","year":"2021","journal-title":"Cell"},{"key":"10.1016\/j.scr.2026.104073_b0050","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.scr.2018.08.003","article-title":"Improving single-cell cloning workflow for gene editing in human pluripotent stem cells","volume":"31","author":"Chen","year":"2018","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.scr.2026.104073_b0055","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/mp.2013.16","article-title":"Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system","volume":"19","author":"Cristino","year":"2014","journal-title":"Mol Psychiatry"},{"key":"10.1016\/j.scr.2026.104073_b0060","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1007\/s10803-012-1627-4","article-title":"Investigating the measurement properties of the social responsiveness scale in preschool children with autism spectrum disorders","volume":"43","author":"Duku","year":"2013","journal-title":"J Autism Dev Disord"},{"key":"10.1016\/j.scr.2026.104073_b0065","doi-asserted-by":"crossref","first-page":"S95","DOI":"10.1097\/00004703-200604002-00007","article-title":"Screening for autism spectrum disorders with the social communication questionnaire","volume":"27","author":"Eaves","year":"2006","journal-title":"J Dev Behav Pediatr"},{"key":"10.1016\/j.scr.2026.104073_b0070","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.neuron.2018.10.033","article-title":"Best practices for translational disease modeling using human iPSC-derived neurons","volume":"100","author":"Engle","year":"2018","journal-title":"Neuron"},{"key":"10.1016\/j.scr.2026.104073_b0075","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ridd.2015.09.004","article-title":"Behavior and sensory interests questionnaire: validation in a sample of children with autism spectrum disorder and other developmental disability","volume":"48","author":"Hanson","year":"2016","journal-title":"Res Dev Disabil"},{"key":"10.1016\/j.scr.2026.104073_b0080","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1101\/gr.178855.114","article-title":"The discovery of integrated gene networks for autism and related disorders","volume":"25","author":"Hormozdiari","year":"2015","journal-title":"Genome Res"},{"key":"10.1016\/j.scr.2026.104073_b0085","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1126\/science.1225829","article-title":"A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity","volume":"337","author":"Jinek","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.scr.2026.104073_b0090","unstructured":"Li, H. (2013) Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv: Genomics."},{"key":"10.1016\/j.scr.2026.104073_b0095","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1038\/s41467-020-16643-5","article-title":"Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation","volume":"11","author":"Maurissen","year":"2020","journal-title":"Nat Commun"},{"key":"10.1016\/j.scr.2026.104073_b0100","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/s41431-017-0042-x","article-title":"Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome","volume":"26","author":"Mitz","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.scr.2026.104073_b0105","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.tins.2020.05.004","article-title":"Neurodevelopmental disorders: from genetics to functional pathways","volume":"43","author":"Parenti","year":"2020","journal-title":"Trends Neurosci"},{"key":"10.1016\/j.scr.2026.104073_b0110","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.janxdis.2018.04.002","article-title":"Disentangling intolerance of uncertainty and threat appraisal in everyday situations","volume":"57","author":"Pepperdine","year":"2018","journal-title":"J Anxiety Disord"},{"key":"10.1016\/j.scr.2026.104073_b0115","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000334260","article-title":"The 22q13.3 deletion syndrome (phelan-mcdermid syndrome)","volume":"2","author":"Phelan","year":"2012","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.scr.2026.104073_b0120","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.scr.2026.104073_b0125","doi-asserted-by":"crossref","DOI":"10.1016\/j.stemcr.2025.102472","article-title":"Gene reactivation upon erosion of X chromosome inactivation in female hiPSCs is predictable yet variable and persists through differentiation","volume":"20","author":"Raposo","year":"2025","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.scr.2026.104073_b0130","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1038\/s41467-018-04609-7","article-title":"Targeting repair pathways with small molecules increases precise genome editing in pluripotent stem cells","volume":"9","author":"Riesenberg","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/j.scr.2026.104073_b0135","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.stemcr.2024.04.008","article-title":"Rigor and reproducibility in human brain organoid research: where we are and where we need to go","volume":"19","author":"Sandoval","year":"2024","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.scr.2026.104073_b0140","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/j.stemcr.2022.02.008","article-title":"Homozygous might be hemizygous: CRISPR\/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls","volume":"17","author":"Simkin","year":"2022","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.scr.2026.104073_b0145","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.stem.2010.06.002","article-title":"Reprogramming of human peripheral blood cells to induced pluripotent stem cells","volume":"7","author":"Staerk","year":"2010","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.scr.2026.104073_b0150","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.scr.2026.104073_b0155","doi-asserted-by":"crossref","unstructured":"Thapa, C., Oh, E.K., Sirkin, D., Lahey, J., de Leon Guerrerro, S.D., McCarroll, A., Gowda, P., Zhang, H., Barishman, A., Peyton, L., Zhang, S., Pollak, R.M., Hart, R.P., Pato, C.N., Kreimer, A., Mulle, J.G., Sanders, A.R., Pang, Z. & Duan, J. (2026) Female iPSC X-chromosome inactivation (XCI) erosion and its transcriptomic effects during CRISPR gene editing and neural differentiation. bioRxiv.","DOI":"10.2139\/ssrn.6447244"},{"key":"10.1016\/j.scr.2026.104073_b0160","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration","volume":"14","author":"Thorvaldsd\u00f3ttir","year":"2013","journal-title":"Brief Bioinform"},{"key":"10.1016\/j.scr.2026.104073_bib191","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1089\/nat.2019.0790","article-title":"Evaluation and Reduction of CRISPR Off-Target Cleavage Events","volume":"29","author":"Vakulskas","year":"2019","journal-title":"Nucleic Acid Ther"},{"key":"10.1016\/j.scr.2026.104073_b0165","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1128\/aem.60.1.149-152.1994","article-title":"Detection of mycoplasma contamination in cell cultures by a mycoplasma group-specific PCR","volume":"60","author":"van Kuppeveld","year":"1994","journal-title":"Appl Environ Microbiol"},{"key":"10.1016\/j.scr.2026.104073_b0170","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.stemcr.2018.08.013","article-title":"Reproducibility of molecular phenotypes after long-term differentiation to human iPSC-derived neurons: a multi-site omics study","volume":"11","author":"Volpato","year":"2018","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.scr.2026.104073_b0175","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.042317","article-title":"Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility","volume":"13","author":"Volpato","year":"2020","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.scr.2026.104073_b0180","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/jmg.40.8.575","article-title":"Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3\/PROSAP2 in the major neurological symptoms","volume":"40","author":"Wilson","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.scr.2026.104073_b0185","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2023.112838","article-title":"Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex","volume":"42","author":"Winden","year":"2023","journal-title":"Cell Rep"},{"key":"10.1016\/j.scr.2026.104073_b0190","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/j.tibtech.2023.03.004","article-title":"Prime editing: advances and therapeutic applications","volume":"41","author":"Zhao","year":"2023","journal-title":"Trends Biotechnol"}],"container-title":["Stem Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506126001698?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506126001698?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T20:43:57Z","timestamp":1789073037000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1873506126001698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":39,"alternative-id":["S1873506126001698"],"URL":"https:\/\/doi.org\/10.1016\/j.scr.2026.104073","relation":{},"ISSN":["1873-5061"],"issn-type":[{"value":"1873-5061","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders","name":"articletitle","label":"Article Title"},{"value":"Stem Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.scr.2026.104073","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"104073"}}