Long QT syndrome (LQTS), an inherited cardiac ion channelopathy, is associated with ventricular arrhythmias and risk of sudden death. LQTS sub-type 2 (LQT2) is caused by pathogenic variants in KCNH2 encoding the α-subunit of Kv11.1, thus affecting the rapid component of delayed rectifier K⁺ current (I_Kr) channel during the action potential. In this study, non-integrational Sendai reprogramming method was used to generate an induced-pluripotent-stem-cell (iPSC) line carrying the KCNH2 c.2464G>A (p.Val822Met) pathogenic variant from a LQT2 patient. This patient-specific iPSC line NUIGi003-A harbouring the c.2464G>A variant expressed pluripotency markers and demonstrated the differentiation potential to all three germ layers.

长QT综合征（LQTS）是一种遗传性心脏离子通道病，与室性心律不齐和猝死风险相关。LQTS亚型2（LQT2）是由KCNH2中的致病变异引起的，该变异编码Kv11.1的α亚基，从而影响了动作电位期间延迟整流器K ⁺电流（I _Kr）通道的快速分量。在这项研究中，使用非集成的仙台重编程方法从LQT2患者中产生了带有KCNH2 c.2464G> A（p.Val822Met）致病变异的诱导多能干细胞（iPSC）品系。带有c.2464G> A变体的该患者特异性iPSC系NUIGi003-A表达了多能性标记，并证明了对所有三个细菌层的分化潜能。