Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies
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- 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.R634WRBM20 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.…
Autor(en): | Hanna Eberl, Sabine RebsORCiD, Stefanie Hoppe, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Benjamin Meder, Katrin Streckfuss-BömekeORCiD |
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URN: | urn:nbn:de:bvb:20-opus-350565 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Institut für Pharmakologie und Toxikologie |
Medizinische Fakultät / Comprehensive Cancer Center Mainfranken | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Stem Cell Research |
ISSN: | 1873-5061 |
Erscheinungsjahr: | 2024 |
Band / Jahrgang: | 74 |
Aufsatznummer: | 103290 |
Originalveröffentlichung / Quelle: | Stem Cell Research (2024) 74:103290. DOI: 10.1016/j.scr.2023.103290 |
DOI: | https://doi.org/10.1016/j.scr.2023.103290 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | DCM genetic background; RBM20 mutations; cell biology; developmental biology; general medicine; monogenetic cardiomyopathies |
Datum der Freischaltung: | 15.05.2024 |
Lizenz (Deutsch): | CC BY-NC-ND: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell, Keine Bearbeitungen 4.0 International |