Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies

Stem Cell Res. 2023 Dec 16;74:103290. doi: 10.1016/j.scr.2023.103290. Online ahead of print.ABSTRACTRBM20 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.PMID:38141360 | DOI:10.1016/j.scr.2023.103290

Source: Cell Research - December 23, 2023 Category: Cytology Authors: Hanna Eberl Sabine Rebs Stefanie Hoppe Farbod Sedaghat-Hamedani Elham Kayvanpour Benjamin Meder Katrin Streckfuss-B ömeke Source Type: research