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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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Main Authors: Eberle, Hanna (Author) , Rebs, Sabine (Author) , Hoppe, Stefanie (Author) , Sedaghat-Hamedani, Farbod (Author) , Kayvanpour, Elham (Author) , Meder, Benjamin (Author) , Streckfuss-Bömeke, Katrin (Author)
Format: Article (Journal)
Language:English
Published: February 2024
In: Stem cell research
Year: 2024, Volume: 74, Pages: 1-6
ISSN:1876-7753
DOI:10.1016/j.scr.2023.103290
Online Access: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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Author Notes:Hanna Eberl, Sabine Rebs, Stefanie Hoppe, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Benjamin Meder, Katrin Streckfuss-Bömeke
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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.
Item Description:Online verfügbar: 16. Dezember 2023, Artikelversion: 22. Dezember 2023
Gesehen am 12.03.2024
Physical Description:Online Resource
ISSN:1876-7753
DOI:10.1016/j.scr.2023.103290

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