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

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 te...

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Published in:Stem cell research 2025-02, Vol.82, p.103635, Article 103635
Main Authors: Li, Xiaolei, Zhang, Junbiao, Wang, Xiaofeng, Pu, Dawei, Zhang, Zhenling, Niu, Yifang, Zhang, Shuai, Fan, Zhenping, Li, Yuxuan, Li, Peicheng, Liu, Hui, Lv, Fenghua, Zhang, Yongchun, Li, Ya’nan
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103635