Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant
Summary
Type 2 Long QT Syndrome (LQT2) is a rare genetic heart rhythm disorder causing life-threatening arrhythmias. We derived induced pluripotent stem cell (iPSC) lines from two patients with LQT2, aged 18 and 6, both carrying a heterozygous missense mutation on the 3rd and 11th exons of KCNH2. The iPSC lines exhibited normal genomes, expressed pluripotent markers, and differentiated into trilineage embryonic layers. These patient-specific iPSC lines provide a valuable model to study the molecular and functional impact of the hERG channel gene mutation in LQT2 and to develop personalized therapeutic approaches for this syndrome. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Goual L, Bounasri E, Vincenti M, Amédro P, Desprat R, Bernex F, Lemaitre JM, Pasquié JL, Lacampagne A, Thireau J, Meli AC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Oct;72:103192 |
| PubMed | 37660555 |
| DOI | 10.1016/j.scr.2023.103192 |