Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2

• DOI: 10.1016/j.scr.2022.102795
• Publication Date: 2022-04-28T16:03:13Z
• Authors: Hong Wen; Lixiang Sun; Jiaqi Zhong; Fujian Wu
• Keywords: hERG

Long-QT syndrome type 2 (LQT2) is a life-threatening Mendelian disease caused by genetic variants in KCNH2. Herein, we generated human embryonic stem cell line (WAe009-A-88) carrying LQT2 related mutation KCNH2, c.1720 A>G. The WAe009-A-88 maintained cell-like morphology, expressed high levels of pluripotent markers, had normal karyotype, and could differentiate into all three germ layers vivo. can serve as valuable tools for modeling vitro investigating the pathological mechanisms to KCNH2 mutations.