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Article

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 - 1 Dec 2017

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, Guan Kaomei

Abstract excerpt

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 patient-specific...

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Source

Identifiers

PMID: 28941705
DOI: 10.1016/j.yjmcc.2017.09.008

Genes

RBM20
TTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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