{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,13]],"date-time":"2025-04-13T04:11:27Z","timestamp":1744517487701,"version":"3.40.4"},"reference-count":3,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T00:00:00Z","timestamp":1708905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Stem Cell Research"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1016\/j.scr.2024.103369","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T17:26:37Z","timestamp":1709141197000},"page":"103369","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del)"],"prefix":"10.1016","volume":"76","author":[{"given":"Tingting","family":"Yin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Qian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunfei","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.scr.2024.103369_b0010","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.ajhg.2020.02.013","article-title":"De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal extension and cause a severe form of neurodevelopmental disorder","volume":"106","author":"Mattioli","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.scr.2024.103369_b0015","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1002\/humu.24414","article-title":"De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes","volume":"43","author":"Scala","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.scr.2024.103369_b0005","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2020.102089","article-title":"Generation of an induced pluripotent stem cell line from an alstr\u00f6m syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line","volume":"49","author":"Ji","year":"2020","journal-title":"Stem Cell Res."}],"container-title":["Stem Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506124000679?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506124000679?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T22:48:08Z","timestamp":1744498088000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1873506124000679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":3,"alternative-id":["S1873506124000679"],"URL":"https:\/\/doi.org\/10.1016\/j.scr.2024.103369","relation":{},"ISSN":["1873-5061"],"issn-type":[{"type":"print","value":"1873-5061"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del)","name":"articletitle","label":"Article Title"},{"value":"Stem Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.scr.2024.103369","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"103369"}}