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

Stem cell research - 1 Sept 2023

Wang Yanxin, Yang Xiaomeng, Zhang Haiyan, Liu Ning, Liu Yong, Gai Zhongtao, Liu Yi, Lv Yuqiang

Abstract excerpt

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...

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PMID: 37385133
DOI: 10.1016/j.scr.2023.103132

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