Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

Autosomal dominant mental retardation type 5 (MRD5) is a rare neurodevelopmental disorder caused by mutations in the SYNGAP1 gene. Here, we established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 30-month-old boy carrying a heterozygous mutation...

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Bibliographic Details
Main Authors: Yanxin Wang, Yuqiang Lv, Xiaomeng Yang, Yue Li, Zilong Li, Zaifen Gao, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Elsevier 2022-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506122002719

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