An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy
2021
Wen-Wen Jia | Ji-Zhen Lu | Lu Zhang | Hong-Xia Cao | Yi-Yao Qi | Han-Yu Zhu | Zhi-Hui Bai | Shou-Mei Zhang | Zhi-Bin Qiao | Yan Bao | Zhong-Min Liu
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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