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Modeling structural and functional deficiencies of<i>RBM20</i>familial dilated cardiomyopathy using human induced pluripotent stem cells

24 Nov 2015

Abstract excerpt

Dilated cardiomyopathy (DCM) is a leading cause of heart failure. In families with autosomal-dominant DCM, heterozygous missense mutations were identified in RNA-binding motif protein 20 (RBM20), a spliceosome protein induced during early cardiogenesis. Dermal fibroblasts from two unrelated patients harboring an RBM20 R636S missense mutation were reprogrammed to human induced pluripotent stem cells (hiPSCs) and...

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Cardiomyopathy and Myosin Studies
Congenital heart defects research
Pluripotent Stem Cells Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 26604136
DOI: 10.1093/hmg/ddv468

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