Article
Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene.
Stem cell research - 1 Oct 2020
Xia Shutao, Wang Xvdong, Yue Peng, Li Yifei, Zhang Donghui
Abstract excerpt
The mutations of desmoplakin (DSP) lead to arrhythmia right ventricular cardiomyopathy (ARVC) which is a kind of progressive cardiomyopathy characterized by arrhythmia, heart failure and sudden cardiac death. The human induced pluripotent stem (iPS) cell line HUBUi001-A was generated from a patient carrying the compound DSP heterozygous mutations (c.104G > T p.G35V; c.5617C > T p.R1873C), which were inherited...
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