Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation
Summary
Long QT syndrome type 1 (LQT1) is a rare heart disorder caused by a loss-of-function mutation in the KCNQ1 gene that causes loss of Kv7.1 channel function, which can lead to Palpitations, Syncope, and Sudden cardiac arrest. We derived induced pluripotent stem cells from PBMC of LQT1 patients carrying a pathogenic variant (c.734G>A; p.Gly245Glu). The non-integrative Sendai virus-mediated iPSC reprogramming method was used for iPSC line generation. These iPSC cell lines exhibit stem cell pluripotency, differentiation capability, and cell morphology, resulting in a reliable cell source to study the effects of KCNQ1 mutation in disease-specific cell types. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Mun D, Yoo G, Park M, Kang JY, Yun N, Joung B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103571 |
| PubMed | 39388802 |
| DOI | 10.1016/j.scr.2024.103571 |