Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies
Summary
RBM20 mutations account for 3 % of genetic cardiomypathies and manifest with high penetrance and arrhythmogenic effects. Numerous mutations in the conserved RS domain have been described as causing dilated cardiomyopathy (DCM), whereas a particular mutation (p.R634L) drives development of a different cardiac phenotype: left-ventricular non-compaction cardiomyopathy. We generated a mutation-induced pluripotent stem cell (iPSC) line in which the RBM20-LVNC mutation p.R634L was introduced into a DCM patient line with rescued RBM20-p.R634W mutation. These DCM-634L-iPSC can be differentiated into functional cardiomyocytes to test whether this RBM20 mutation induces development of the LVNC phenotype within the genetic context of a DCM patient. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Eberl H, Rebs S, Hoppe S, Sedaghat-Hamedani F, Kayvanpour E, Meder B, Streckfuss-Bömeke K |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Feb;74:103290 |
| PubMed | 38141360 |
| DOI | 10.1016/j.scr.2023.103290 |