Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations

Stem Cell Research 2026 Open access

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Authors: Shuai Sun, Xiaochun Yang, Y. Zhou, Rebecca Yu, Parker Walther, Jeffrey Teuteberg, Victoria N. Parikh, Joseph C. Wu
DOI: 10.1016/j.scr.2026.103911
Cited by: 3
References: 4

Abstract

Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular enlargement and reduced contractile ability, which frequently leads to heart failure and arrhythmias. This condition is related to loss-of-function mutations in the RNA-binding motif protein 20 (RBM20), which disrupts target gene splicing. Two induced pluripotent stem cell (iPSC) lines, each harboring a single heterozygous RBM20 mutation, were generated from DCM patients. Both cell lines retain normal karyotypes and exhibit robust undifferentiated iPSC state markers. They have the capability to differentiate into derivatives of three germ layers, which provides a significant in vitro tool for RBM20-related DCM and a valuable platform for therapeutic development.

Fields of Study & Subjects

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

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
91
Pages
103911–103911
Publication date
14 January 2026
Language
EN