RNA binding motif protein 20 (RBM20) is an alternative splicing factor and highly expressed in cardiac tissue. Mutations in the RS domain of RBM20 have been shown to cause different cardiomyopathies. Here, we generated induced pluripotent stem cells (iPSCs) from a dilated cardiomyopathy patient harboring the heterozygous RBM20 mutation p.R634W and consecutively produced isogenic control line using CRISPR/Cas9 genome editing. Patient-specific RBM20 iPSCs and isogenic control line maintained full pluripotency, genomic integrity, and in vitro differentiation capacity. All iPSC-lines were able to differentiate into pure cardiomyocytes, thus providing a valuable tool for studying the pathogenesis of human RBM20-mediated cardiac disease.

RNA 结合基序蛋白 20 (RBM20) 是一种替代剪接因子，在心脏组织中高度表达。 RBM20 RS 结构域的突变已被证明可引起不同的心肌病。在这里，我们从一名携带杂合 RBM20 突变 p.R634W 的扩张型心肌病患者中产生了诱导多能干细胞 (iPSC)，并使用 CRISPR/Cas9 基因组编辑连续产生了等基因对照系。患者特异性 RBM20 iPSC 和同基因对照系保持完全多能性、基因组完整性和体外分化能力。所有 iPSC 系都能够分化为纯心肌细胞，从而为研究人类 RBM20 介导的心脏病的发病机制提供了有价值的工具。