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)
Summary
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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Qi YY, Lu JZ, Zhang L, Cao HX, Zhu HY, Bai ZH, Zhang SM, Qiao ZB, Jia WW, Liu ZM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102369 |
| PubMed | 34087998 |
| DOI | 10.1016/j.scr.2021.102369 |