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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 gener...

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Detalles Bibliográficos
Autores principales: Loiben, Alexander, Friedman, Clayton E., Chien, Wei-Ming, Stempien-Otero, April, Lin, Shin, Yang, Kai-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900081/
https://www.ncbi.nlm.nih.gov/pubmed/36481506
http://dx.doi.org/10.1016/j.scr.2022.102987
Descripción
Sumario: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.