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Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder

Research output: Contribution to journalArticlepeer-review

Liani G. Devito, Lyn Healy, Shehla Mohammed, Francois Guillemot, Cristina Dias

Original languageEnglish
Article number102304
JournalStem Cell Research
Volume53
DOIs
PublishedMay 2021

Bibliographical 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: © 2021 The Authors Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

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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.

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