Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)
Year: 2024
Type: article
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.
Source: Stem Cell Research
Authors: Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya’nan Li, Ya’nan Li
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,320
Award: G8446177182
OpenAlex ID: W4405611876