{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T14:05:09Z","timestamp":1761746709621,"version":"build-2065373602"},"reference-count":5,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008109","name":"University of Notre Dame","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008109","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":[[2022,7]]},"DOI":"10.1016\/j.scr.2022.102799","type":"journal-article","created":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T12:08:28Z","timestamp":1651666108000},"page":"102799","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation"],"prefix":"10.1016","volume":"62","author":[{"given":"Tyson W.","family":"Lager","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junjun","family":"Zuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md Suhail","family":"Alam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Calhoun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kasturi","family":"Haldar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athanasia D.","family":"Panopoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.scr.2022.102799_b0005","doi-asserted-by":"crossref","first-page":"468","DOI":"10.3390\/genes12040468","article-title":"Kabuki syndrome\u2014clinical review with molecular aspects","volume":"12","author":"Boniel","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.scr.2022.102799_b0010","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/s41588-020-00724-8","article-title":"MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome","volume":"52","author":"Fasciani","year":"2020","journal-title":"Nat. Genet."},{"key":"10.1016\/j.scr.2022.102799_b0015","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1159\/000513199","article-title":"Kabuki syndrome: identification of two novel variants in KMT2D and KDM6A","volume":"12","author":"Khodaeian","year":"2021","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.scr.2022.102799_b0020","article-title":"Skin punch biopsy explant culture for derivation of primary human fibroblasts","volume":"77","author":"Vangipuram","year":"2013","journal-title":"J. Vis. Exp."},{"key":"10.1016\/j.scr.2022.102799_b0025","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1007\/s12519-019-00309-4","article-title":"Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms","volume":"15","author":"Wang","year":"2019","journal-title":"World J. Pediatr."}],"container-title":["Stem Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506122001489?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506122001489?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T11:37:01Z","timestamp":1761737821000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1873506122001489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":5,"alternative-id":["S1873506122001489"],"URL":"https:\/\/doi.org\/10.1016\/j.scr.2022.102799","relation":{},"ISSN":["1873-5061"],"issn-type":[{"type":"print","value":"1873-5061"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation","name":"articletitle","label":"Article Title"},{"value":"Stem Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.scr.2022.102799","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"102799"}}