Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients

携带扩张型心肌病患者杂合 PLN 突变的人类诱导性多能干细胞系的产生

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作者:Arianne Caudal, Gema Mondejar-Parreño, Carlos D Vera, Damon R Williams, Sushma P Shenoy, David Liang, Joseph C Wu

Abstract

Familial dilated cardiomyopathy (DCM) is among the most prevalent forms of inherited heart disease. Here, two human-induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) from DCM patients carrying different mutations in the phospholamban encoding-gene (PLN). Both iPSC lines exhibited normal morphology, karyotype, pluripotency marker expression, and differentiation into the three germ layers. These patient-specific iPSC lines serve as valuable in vitro models for DCM pathology caused by PLN mutations.

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