Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome
Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome
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DOI：
10.1016/j.scr.2021.102402
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发表时间：
2021-05-26
影响因子：
1.2
通讯作者：
Wu, Joseph C.
中科院分区：
文献类型：
--
作者：
Mondejar-Parreno, Gema;Jahng, James W. S.;Wu, Joseph C.
先天性长QT综合征2型（LQT2）是由KCNH2突变引起的，KCNH2突变导致Kv11.1通道功能丧失，可导致心律失常、晕厥和猝死。在这里，我们从两名携带致病性变体（c.1714G > A和c.2960del）的LQT 2患者和一名携带KCNH2中不确定意义的变体（c.1870A > T）的LQT 2患者的外周血单核细胞（PBMC）产生了三种人诱导多能干细胞（iPSC）系。所有细胞系均显示出典型的iPSC形态、多能标记物的高表达、正常核型，并在体外分化成三个胚层。这些细胞系为研究KCNH2突变引起的LQTS的病理机制提供了宝贵的资源。
Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two LQT2 patients carrying pathogenic variants (c.1714G > A and c.2960del) and one LQT2 patient carrying a variant of uncertain significance (c.1870A > T) in KCNH2. All lines show typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and differentiate into three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of LQTS caused by caused by KCNH2 mutations.