Article
An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy.
Stem cell research - 1 May 2021
Jia Wen-Wen, Lu Ji-Zhen, Zhang Lu, Cao Hong-Xia, Qi Yi-Yao, Zhu Han-Yu, Bai Zhi-Hui, Zhang Shou-Mei, Qiao Zhi-Bin, Bao Yan, Liu Zhong-Min
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease. An induced pluripotent stem cell line (EHTJUi003-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.L460Wfs (c.1377delC) in the MYBPC3 gene. This iPSC model offers a very valuable resource to study the pathological mechanism of HCM in vitro.
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