Article
Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 19 Jun 2023
Zhou Yafei, Huang Wenjun, Liu Leiying, Li Anmao, Jiang Congshan, Zhou Rui, Wang Jie, Tan Xiaoqiu, Huang Christopher L-H, Zhang Yanmin
Abstract excerpt
We illustrate use of induced pluripotent stem cells (iPSCs) as platforms for investigating cardiomyocyte phenotypes in a human family pedigree exemplified by novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants occurring alone and in combination. The proband, a four-month-old boy, presented with polymorphic ventricular tachycardia. Genetic tests revealed double novel heterozygous RYR2-A1855D and...
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