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

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 differen...

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Bibliographic Details
Published in:Stem cell research 2024-02, Vol.74, p.103290-103290, Article 103290
Main Authors: Eberl, Hanna, Rebs, Sabine, Hoppe, Stefanie, Sedaghat-Hamedani, Farbod, Kayvanpour, Elham, Meder, Benjamin, Streckfuss-Bömeke, Katrin
Format: Article
Language:English
Subjects:
Cardiomyopathies - genetics
Cardiomyopathies - metabolism
Cardiomyopathy, Dilated - genetics
Genetic Background
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation - genetics
Myocytes, Cardiac - metabolism
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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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103290