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Generation of a human embryonic stem cell line (WAe009-A-43) carrying a Long QT syndrome related mutation in KCNH2 gene.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-09-02 , DOI: 10.1016/j.scr.2020.101976
Xiaodan Wu 1 , Yitong Zhao 2 , Xiantao Wang 1
Affiliation  

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:

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

更新日期:2020-09-02
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