Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model

Heart Rhythm（2022）

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摘要

Our iPSC-based analysis in CACNA1C-E1115K with disrupted Ca1.2 selectivity demonstrated that the aberrant currents through the mutant channels carried by monovalent cations resulted in specific action potential changes, which increased endogenous I, thereby synergistically contributing to the arrhythmogenic phenotype.

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关键词

L-type Ca2+ channel,Induced pluripotent stem cell,Late Na+ channel current,Long QT syndrome,Brugada syndrome,Gene editing,Arrhythmia,Ion selectivity

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