Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)

被引：0
|
作者：
Li, Xiaolei [1 ]
Zhang, Junbiao [1 ]
Wang, Xiaofeng [1 ]
Pu, Dawei [1 ]
Zhang, Zhenling [1 ]
Niu, Yifang [1 ]
Zhang, Shuai [2 ]
Fan, Zhenping [1 ]
Li, Yuxuan [1 ]
Li, Peicheng [1 ]
Liu, Hui [1 ]
Lv, Fenghua [1 ]
Zhang, Yongchun [1 ]
Li, Ya'nan [1 ]
机构：
[1] Xinxiang Med Univ, Affiliated Hosp 1, Dept Cardiol, Weihui 453100, Peoples R China
[2] Capital Med Univ, Beijing Anzhen Hosp, Dept Cardiol, Beijing 100029, Peoples R China
来源：
STEM CELL RESEARCH | 2025年 / 82卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2024.103635
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A using non-integrative Sendai reprogramming technology from an individual carrying a heterozygous point mutation (c.2690 A>C) in KCNH2. XXMUFAi001-A cell line exhibited expression of pluripotency markers and demonstrated teratoma formation capability in vivo, as well as the potential to differentiate into all three germ layers. The establishment of XXMUFAi001-A is crucial for investigating the pathogenesis and drug screening of LQT2.
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页数：4
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