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

ABSTRACT: 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.

SUBMITTER: Loiben A

PROVIDER: S-EPMC9900081 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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

Loiben Alexander A Friedman Clayton E CE Chien Wei-Ming WM Stempien-Otero April A Lin Shin S Yang Kai-Chun KC

Stem cell research 20221130

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 ...[more]

PMID: 36481506

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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating Variant.

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2023-03-02 | GSE208213 | GEO

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