Why the study?
Familial ARVD is a life-threatening primary cardiomyopathy characterized by right ventricular muscle abnormalities and refractory arrhythmias, requiring in vitro models to study its pathological mechanisms.
The generation of this iPSC line provides a valuable in vitro model to study the pathological mechanisms of Familial Arrhythmogenic Right Ventricular Dysplasia.
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.
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Qi et al. (2021) studied this question.
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