Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Li X, Zhang J, Wang X, Pu D, Zhang Z, Niu Y, Zhang S, Fan Z, Li Y, Li P, Liu H, Lv F, Zhang Y, Li Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Feb;82:103635 |
| PubMed | 39709756 |
| DOI | 10.1016/j.scr.2024.103635 |