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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Devito LG, Healy L, Mohammed S, Guillemot F, Dias C
Journal Stem cell research
Publication Date 2021 Mar 20;53:102304
PubMed 33799280
DOI 10.1016/j.scr.2021.102304

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