The hereditary Long QT syndrome (LQTS) is a life-threaten channelopathy of the heart characterized by prolonged QT intervals and predisposition to occur polymorphic ventricular tachyarrhythmias. LQTS type 2 is the second most prevalent type of LQTS and more than 200 putative disease-causing mutations have been identified for KCNH2. Herein, we have generated a human embryonic stem cell line (WAe009-A-43) carrying a LQTS related mutation in KCNH2 (WAe009-A-43). The WAe009-A-43 line maintained stem cell like morphology, pluripotency, normal karyotype and could differentiate into all three germ layers in vivo.

中文翻译：

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在KCNH2基因中携带Long QT综合征相关突变的人类胚胎干细胞系（WAe009-A-43）的产生。

遗传性长QT综合征（LQTS）是心脏的终生性通道病，其特征在于QT间隔时间延长和易发生多形性室性心律失常。LQTS 2型是LQTS的第二大流行类型，已经为KCNH2鉴定了200多个推定的致病突变。本文中，我们已经产生了在KCNH2（WAe009-A-43）中携带LQTS相关突变的人类胚胎干细胞系（WAe009-A-43）。WAe009-A-43系保持干细胞的形态，多能性，正常核型，并且可以在体内分化为所有三个胚层。