@article{37efb792beed4af18fe1d48409849a6f,
title = "Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder",
abstract = "Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line from a male patient with atypical CSS features and a de novo heterozygous missense mutation in the SMARCA4 gene (c.3607C>T, p.(Arg1203Cys)). Hair root derived keratinocytes were reprogrammed using non-integrative Sendai virus vector delivery of pluripotency factors. iPSCs generated display normal morphology and molecular karyotype, express pluripotency markers and are able to differentiate into the three germ layers.",
author = "Devito, {Liani G.} and Lyn Healy and Shehla Mohammed and Francois Guillemot and Cristina Dias",
note = "Funding Information: The authors wish to thank the patient and family. We thank the Francis Crick Institute Genomics Equipment Park and Cell Services STPs. This work was supported by: the Wellcome Trust (Fellowship Award 209568/Z/17/Z to C.D.); The Francis Crick Institute, which receives its funding from Cancer Research UK (FC0010089), the UK Medical Research Council (FC0010089) and the Wellcome Trust (FC0010089); the Rosetrees Trust (project grant PGS19-2/10104 to C.D.). The BUILD Study (REC 17/LO/0981) is supported by The Wellcome Trust, the NIHR Rare Disease Consortium and the Great Ormond Street Hospital NIHR Clinical Research Facility. Publisher Copyright: {\textcopyright} 2021 The Authors Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = may,
doi = "10.1016/j.scr.2021.102304",
language = "English",
volume = "53",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
}