Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene


The pathogenic mutations of Synaptic Ras GTPase-activating protein 1 (SYNGAP1) gene (OMIM #603384) have been tightly associated with a neurodevelopmental disease, also called autosomal dominant mental retardation type 5 (MRD5, OMIM #612621). We generated a human iPS cell line from a 34-month-old young girl bearing a recurrent heterozygous mutation (c.427C > T) of SYNGAP1. This cell line has great performance in pluripotency and shows differentiation potential towards three germ layers in vitro. Copyright © 2023. Published by Elsevier B.V.

Authors Wang Y, Yang X, Zhang H, Liu N, Liu Y, Gai Z, Liu Y, Lv Y
Journal Stem cell research
Publication Date 2023 Sep;71:103132
PubMed 37385133
DOI 10.1016/j.scr.2023.103132

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