Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene


Coffin-Siris syndrome 1 (CSS1) is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Mutations in the ARID1B gene are the most common cause of CSS1. Here, we generated an induced pluripotent stem cell line SDQLCHi045-A from a one-year-old girl with CSS1 caused by heterozygous mutation (c.1924C>T, p.Q642X) in the ARID1B gene (OMIM*135900). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yang X, Liu C, Zhang H, Lv Y, Li Y, Li Z, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2022 Nov 24;66:102982
PubMed 36473251
DOI 10.1016/j.scr.2022.102982

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