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Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes

Streckfuss-Bömeke, Katrin, Tiburcy, Malte, Fomin, Andrey, Luo, Xiaojing, Li, Wener, Fischer, Claudia, Özcelik, Cemil, Perrot, Andreas, Sossalla, Samuel, Haas, Jan, Vidal, Ramon Oliveira, Rebs, Sabine, Khadjeh, Sara, Meder, Benjamin, Bonn, Stefan , Linke, Wolfgang A., Zimmermann, Wolfram-Hubertus, Hasenfuss, Gerd and Guan, Kaomei (2017) Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes. Journal of Molecular and Cellular Cardiology 113, pp. 9-21.

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Other URL: http://doi.org/10.1016/j.yjmcc.2017.09.008


Abstract

The ability to generate patient-specific induced pluripotent stem cells (iPSCs) provides a unique opportunity for modeling heart disease in vitro. In this study, we generated iPSCs from a patient with dilated cardiomyopathy (DCM) caused by a missense mutation S635A in RNA-binding motif protein 20 (RBM20) and investigated the functionality and cell biology of cardiomyocytes (CMs) derived from ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Innere Medizin II
Identification Number:
ValueType
10.1016/j.yjmcc.2017.09.008DOI
Keywords:FAMILIAL DILATED CARDIOMYOPATHY; TITIN ISOFORM; MYOCARDIUM; EXPRESSION; MATURATION; STIFFNESS; HEART; GENE; FIBROBLASTS; DISRUPTION; RNA-binding motif protein 20 (RBM20); Induced pluripotent stem cells (iPSCs); Cardiomyocytes; Dilated cardiomyopathy (DCM); Alternative splicing; Titin (TTN)
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:39549
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