New approach to analyze inherited arrhythmias using human iPS cells

在本研究中，我们利用人iPS细胞来源的心肌细胞研究遗传性心律失常的致病机制; 1。我们评估了一年培养过程中hiPS-CM的超微结构变化，并证明了超微结构的肌节成熟过程。2.我们从一名与儿茶酚胺能多形性室性心动过速相关的患者中产生了疾病特异性iPS细胞。分化的心肌细胞对儿茶酚胺诱导的钙波的敏感性增加，表明细胞重现了CPVT表型。3.我们产生了iPS细胞，并在一个患有遗传性心律失常的大家族中进行了全外显子组测序（正在分析中）。

In this study, we investigated the disease causing mechanisms of inherited arrhythmias using human iPS cell derived cardiomyocytes; 1. We assessed the ultrastructural changes of hiPS-CMs during a one-year culture and demonstrated the ultrastructural sarcomeric maturation process. 2. We generated disease-specific iPS cells from a patient associated with catecholaminergic polymorphic ventricular tachycardia. The differentiated cardiomyocytes had an increased susceptibility to catecholamine-induced calcium waves indicating that the cells recapiturated the CPVT phenotype. 3. We generated iPS cells and conducted whole exome sequencing in a large family with an inherited arrhythmia (under analysis).