Generation of human iPSC line from an arrhythmogenic cardiomyopathy patient with a DSP protein-truncating variant


Arrhythmogenic cardiomyopathy is an inheritable heart disease characterized by lethal heart rhythms and abnormal contractile function. Mutations in desmoplakin (DSP), a protein linking the cardiac desmosome with intermediate filaments, are associated with arrhythmogenic cardiomyopathy. Here we generated a human induced pluripotent stem cell (hiPSC) line from a patient with a heterozygous protein-truncating variant in DSP (c.1386del Leu462Serfs*22). This line has a normal karyotype and expression of pluripotency markers, and can differentiate into all three germ layers. This line is well suited for in vitro mechanistic studies of mechanism of DSP protein-truncation mutations in the context of arrhythmogenic cardiomyopathy. Published by Elsevier B.V.

Authors Loiben A, Friedman CE, Chien WM, Stempien-Otero A, Lin S, Yang KC
Journal Stem cell research
Publication Date 2023 Feb;66:102987
PubMed 36481506
DOI 10.1016/j.scr.2022.102987

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