TY  - JOUR
A1  - Eberl, Hanna
A1  - Rebs, Sabine
A1  - Hoppe, Stefanie
A1  - Sedaghat-Hamedani, Farbod
A1  - Kayvanpour, Elham
A1  - Meder, Benjamin
A1  - Streckfuss-Bömeke, Katrin
T1  - Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies
JF  - Stem Cell Research
N2  - 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.
KW  - cell biology
KW  - developmental biology
KW  - general medicine
KW  - RBM20 mutations
KW  - DCM genetic background
KW  - monogenetic cardiomyopathies
Y1  - 2024
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-350565
SN  - 1873-5061
VL  - 74
ER  -