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

Xiaolei Li; Junbiao Zhang; Xiaofeng Wang; Dawei Pu; Zhenling Zhang; Yifang Niu; Shuai Zhang; Zhenping Fan; Yuxuan Li; Peicheng Li; Hui Liu; Fenghua Lv; Yongchun Zhang; Ya'nan Li

doi:10.1016/j.scr.2024.103635

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

Stem Cell Res. 2024 Dec 19:82:103635. doi: 10.1016/j.scr.2024.103635. Online ahead of print.

Authors

Affiliations

¹ Department of Cardiology, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang Medical University, Weihui 453100, China.
² Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.
³ Department of Cardiology, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang Medical University, Weihui 453100, China. Electronic address: [email protected].

PMID: 39709756
DOI: 10.1016/j.scr.2024.103635

Abstract

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.