Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Circulation. Arrhythmia and electrophysiology（2023）
摘要
We, for the first time, established a CaM-related CPVT iPSC-CM model which recapitulated severe arrhythmogenic features resulting from E46K-CaM dominantly binding and facilitating RyR2. In addition, the findings in iPSC-based drug testing will contribute to precision medicine.
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关键词
arrhythmias,calmodulin,gene editing,induced pluripotent stem cells,ryanodine receptor calcium release channel,sarcoplasmic reticulum,ventricular tachycardia
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