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...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
February 2024
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| In: |
Stem cell research
Year: 2024, Jahrgang: 74, Pages: 1-6 |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2023.103290 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.scr.2023.103290 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506123002763 
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| Verfasserangaben: | Hanna Eberl, Sabine Rebs, Stefanie Hoppe, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Benjamin Meder, Katrin Streckfuss-Bömeke |
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| 245 | 1 | 0 | |a Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies |c Hanna Eberl, Sabine Rebs, Stefanie Hoppe, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Benjamin Meder, Katrin Streckfuss-Bömeke |
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| 520 | |a 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. | ||
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