Stem Cell Research (May 2021)

An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy

  • 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

Journal volume & issue
Vol. 53
p. 102328

Abstract

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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.