{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T12:54:48Z","timestamp":1773838488082,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["PROEP\/ICC 442324\/2019-7"],"award-info":[{"award-number":["PROEP\/ICC 442324\/2019-7"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["Scholarship"],"award-info":[{"award-number":["Scholarship"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Human Cell"],"DOI":"10.1007\/s13577-023-00978-4","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T10:02:19Z","timestamp":1693389739000},"page":"2237-2246","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant"],"prefix":"10.1007","volume":"36","author":[{"given":"Isabelle Leticia Zaboroski","family":"Silva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rubens","family":"Gomes-J\u00fanior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelin Brand\u00e3o","family":"da Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isadora May","family":"Vaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valderez Ravaglio","family":"Jamur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno Solano","family":"de Freitas Souza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6443-1529","authenticated-orcid":false,"given":"Patr\u00edcia","family":"Shigunov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"978_CR1","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","volume":"2","author":"K Takahashi","year":"2006","unstructured":"Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;2:663\u201376.","journal-title":"Cell"},{"key":"978_CR2","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s10565-017-9384-y","volume":"33","author":"C Mora","year":"2017","unstructured":"Mora C, Serzanti M, Consiglio A, Memo M, Dell\u2019era P,. Clinical potentials of human pluripotent stem cells. Cell Biol Toxicol. 2017;33:351\u201360.","journal-title":"Cell Biol Toxicol"},{"key":"978_CR3","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1111\/j.1528-1167.2010.02657.x","volume":"51","author":"JM Pellock","year":"2010","unstructured":"Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010;51:2175\u201389.","journal-title":"Epilepsia"},{"key":"978_CR4","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1002\/ana.25208","volume":"83","author":"M Nakashima","year":"2018","unstructured":"Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, et al. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. Ann Neurol. 2018;83:794\u2013806.","journal-title":"Ann Neurol"},{"key":"978_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fncel.2017.00147","volume":"11","author":"A Konietzny","year":"2017","unstructured":"Konietzny A, B\u00e4r J, Mikhaylova M. Dendritic actin cytoskeleton: structure, functions, and regulations. Front Cell Neurosci. 2017;11:1\u201310.","journal-title":"Front Cell Neurosci"},{"key":"978_CR6","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1038\/418732a","volume":"418","author":"GOC Cory","year":"2002","unstructured":"Cory GOC, Ridley AJ. Braking WAVEs. Nature. 2002;418:732\u20133.","journal-title":"Nature"},{"key":"978_CR7","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1002\/cm.20342","volume":"66","author":"E Derivery","year":"2009","unstructured":"Derivery E, Lombard B, Loew D, Gautreau A. The wave complex is intrinsically inactive. Cell Motil Cytoskelet. 2009;66:777\u201390.","journal-title":"Cell Motil Cytoskelet"},{"key":"978_CR8","doi-asserted-by":"publisher","first-page":"8844","DOI":"10.1073\/pnas.151231598","volume":"98","author":"A Schenck","year":"2001","unstructured":"Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci USA. 2001;98:8844\u20139.","journal-title":"Proc Natl Acad Sci USA"},{"key":"978_CR9","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1038\/s41436-020-01011-x","volume":"23","author":"A Begemann","year":"2021","unstructured":"Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, et al. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genet Med. 2021;23:543\u201354.","journal-title":"Genet Med"},{"key":"978_CR10","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1080\/19768354.2019.1696406","volume":"23","author":"Y Zhang","year":"2019","unstructured":"Zhang Y, Kang HR, Han K. Differential cell-type-expression of CYFIP1 and CYFIP2 in the adult mouse hippocampus. Anim Cells Syst (Seoul). 2019;23:380\u20133.","journal-title":"Anim Cells Syst (Seoul)"},{"key":"978_CR11","first-page":"1","volume":"4","author":"M Pathania","year":"2014","unstructured":"Pathania M, Davenport EC, Muir J, Sheehan DF, L\u00f3pez-Dom\u00e9nech G, Kittler JT. The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines. Transl Psychiatry. 2014;4:1\u201311.","journal-title":"Transl Psychiatry"},{"key":"978_CR12","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/ana.26535","volume":"93","author":"M Kang","year":"2023","unstructured":"Kang M, Zhang Y, Kang HR, Kim S, Yi Y, Lee S, et al. The CYFIP2 p.Arg87Cys causes neurological defects and degradation of CYFIP2 running. Ann Neurol. 2023;93:155\u201363.","journal-title":"Ann Neurol"},{"key":"978_CR13","first-page":"21.7.1","volume":"2017","author":"C Steichen","year":"2017","unstructured":"Steichen C, Si-Tayeb K, Wulkan F, Crestani T, Rosas G, Dariolli R, et al. Human induced pluripotent stem (hiPS) cells from urine samples: a non-integrative and feeder-free reprogramming strategy. Curr Protoc Hum Genet. 2017;2017:21.7.1-21.7.22.","journal-title":"Curr Protoc Hum Genet"},{"key":"978_CR14","doi-asserted-by":"publisher","first-page":"2080","DOI":"10.1038\/nprot.2012.115","volume":"7","author":"T Zhou","year":"2012","unstructured":"Zhou T, Benda C, Dunzinger S, Huang Y, Ho JC, Yang J, et al. Generation of human induced pluripotent stem cells from urine samples. Nat Protoc. 2012;7:2080\u20139.","journal-title":"Nat Protoc"},{"key":"978_CR15","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1007\/s12015-010-9224-4","volume":"7","author":"D Moralli","year":"2011","unstructured":"Moralli D, Yusuf M, Mandegar MA, Khoja S, Monaco ZL, Volpi EV. An improved technique for chromosomal analysis of human ES and iPS cells. Stem Cell Rev Rep. 2011;7:471\u20137.","journal-title":"Stem Cell Rev Rep"},{"key":"978_CR16","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/jnr.24747","volume":"99","author":"LY Ahn","year":"2021","unstructured":"Ahn LY, Coatti GC, Liu J, Gumus E, Schaffer AE, Miranda HC. An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. J Neurosci Res. 2021;99:110\u201323.","journal-title":"J Neurosci Res"},{"key":"978_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.bbrc.2020.05.221","volume":"529","author":"Y Lee","year":"2020","unstructured":"Lee Y, Zhang Y, Kang H, Bang G, Kim Y, Kang HR, et al. Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain. Biochem Biophys Res Commun. 2020;529:1\u20136.","journal-title":"Biochem Biophys Res Commun"},{"key":"978_CR18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fnmol.2018.00482","volume":"11","author":"Y Zhang","year":"2019","unstructured":"Zhang Y, Kang H, Lee Y, Kim Y, Lee B, Kim JY, et al. Smaller body size, early postnatal lethality, and cortical extracellular matrix-related gene expression changes of Cyfip2-null embryonic mice. Front Mol Neurosci. 2019;11:1\u20135.","journal-title":"Front Mol Neurosci"},{"key":"978_CR19","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1002\/ana.25827","volume":"88","author":"SH Lee","year":"2020","unstructured":"Lee SH, Zhang Y, Park J, Kim B, Kim Y, Lee SH, et al. Haploinsufficiency of Cyfip2 causes lithium-responsive prefrontal dysfunction. Ann Neurol. 2020;88:526\u201343.","journal-title":"Ann Neurol"},{"key":"978_CR20","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1681\/ASN.2011010106","volume":"22","author":"T Zhou","year":"2011","unstructured":"Zhou T, Benda C, Duzinger S, Huang Y, Li X, Li Y, et al. Generation of induced pluripotent stem cells from urine. J Am Soc Nephrol. 2011;22:1221\u20138.","journal-title":"J Am Soc Nephrol"},{"key":"978_CR21","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1242\/dmm.022277","volume":"9","author":"K Si-Tayeb","year":"2016","unstructured":"Si-Tayeb K, Idriss S, Champon B, Caillaud A, Pichelin M, Arnaud L, et al. Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia. DMM Dis Models Mech [Internet]. 2016;9:81\u201390.","journal-title":"DMM Dis Models Mech [Internet]"},{"key":"978_CR22","doi-asserted-by":"publisher","first-page":"1840","DOI":"10.1002\/stem.1424","volume":"31","author":"S Bharadwaj","year":"2013","unstructured":"Bharadwaj S, Liu G, Shi Y, Wu R, Yang B, He T, et al. Multipotential differentiation of human urine-derived stem cells: potential for therapeutic applications in urology. Stem Cells. 2013;31:1840\u201356.","journal-title":"Stem Cells"},{"key":"978_CR23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fnmol.2017.00348","volume":"10","author":"L Cheng","year":"2017","unstructured":"Cheng L, Lei Q, Yin C, Wang HY, Jin K, Xiang M. Generation of urine cell-derived non-integrative human iPSCs and iNSCs: a step-by-step optimized protocol. Front Mol Neurosci. 2017;10:1\u20138.","journal-title":"Front Mol Neurosci"},{"key":"978_CR24","doi-asserted-by":"publisher","first-page":"1128","DOI":"10.1016\/j.ajpath.2013.06.025","volume":"183","author":"F Wezel","year":"2013","unstructured":"Wezel F, Pearson J, Kirkwood LA, Southgate J. Differential expression of oct4 variants and pseudogenes in normal urothelium and urothelial cancer. Am J Pathol. 2013;183:1128\u201336.","journal-title":"Am J Pathol"},{"key":"978_CR25","doi-asserted-by":"publisher","first-page":"3068","DOI":"10.1634\/stemcells.2008-0530","volume":"26","author":"Y Atlasi","year":"2008","unstructured":"Atlasi Y, Mowla SJ, Ziaee SAM, Gokhale PJ, Andrews PW. OCT4 spliced variants are differentially expressed in human pluripotent and nonpluripotent cells. Stem Cells. 2008;26:3068\u201374.","journal-title":"Stem Cells"}],"container-title":["Human Cell"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13577-023-00978-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13577-023-00978-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13577-023-00978-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,27]],"date-time":"2024-10-27T03:15:31Z","timestamp":1729998931000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13577-023-00978-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,30]]},"references-count":25,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,11]]}},"alternative-id":["978"],"URL":"https:\/\/doi.org\/10.1007\/s13577-023-00978-4","relation":{},"ISSN":["1749-0774"],"issn-type":[{"value":"1749-0774","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,30]]},"assertion":[{"value":"15 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 August 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study has approval by the Research Ethics Committee (CEP) of Fiocruz, and by the Brazilian National Research Ethics Committee (CONEP), under opinion number 3.856.868, CAAE: 16918819.7.0000.5248.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"All study participants provided written informed consent prior to enrolment.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"This manuscript has been approved by all authors and is solely the work of the authors named.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}]}}