• Media type: E-Article
  • Title: Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies
  • Contributor: Eberle, Hanna [Author]; Rebs, Sabine [Author]; Hoppe, Stefanie [Author]; Sedaghat-Hamedani, Farbod [Author]; Kayvanpour, Elham [Author]; Meder, Benjamin [Author]; Streckfuss-Bömeke, Katrin [Author]
  • Published: February 2024
  • Published in: Stem cell research ; 74(2024) vom: Feb., Artikel-ID 103290, Seite 1-6
  • Language: English
  • DOI: 10.1016/j.scr.2023.103290
  • Identifier:
  • Origination:
  • Footnote: Online verfügbar: 16. Dezember 2023, Artikelversion: 22. Dezember 2023
  • Description: 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.
  • Access State: Open Access