Stem Cell Research (May 2021)

An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD)

  • Yi-Yao Qi,
  • Ji-Zhen Lu,
  • Lu Zhang,
  • Hong-Xia Cao,
  • Han-Yu Zhu,
  • Zhi-Hui Bai,
  • Shou-Mei Zhang,
  • Zhi-Bin Qiao,
  • Wen-Wen Jia,
  • Zhong-Min Liu

Journal volume & issue
Vol. 53
p. 102369

Abstract

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Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a primary cardiomyopathy characterized by the abnormality of the right ventricular muscle. ARVD may be life-threatening due to the induction of paroxysmal refractory ventricular tachycardia or supraventricular arrhythmia. A human induced pluripotent stem cell line (EHTJUi004-A) was generated from human umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.Leu1563fs (c.4683_4684delCT) in the DSP gene. This iPS cell line resource provides an ideal in vitro model to study the pathological mechanism of ARVD.