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Article

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

Stem cell research - 1 Feb 2023

Loiben Alexander, Friedman Clayton E, Chien Wei-Ming, Stempien-Otero April, Lin Shin, Yang Kai-Chun

Abstract excerpt

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...

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Identifiers

PMID: 36481506
DOI: 10.1016/j.scr.2022.102987
PMCID: PMC9900081

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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