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

Stem cell research

article

Alexander Loiben¹  Clayton E. Friedman¹  Wei-Ming Chien¹  April Stempien-Otero¹  Shin Lin¹  Kai-Chun Yang¹ 

[1] Department of Medicine/Cardiology, University of Washington;Center for Cardiovascular Biology, University of Washington;Institute for Stem Cell and Regenerative Medicine, University of Washington, School of Medicine;Cardiology/Hospital Specialty Medicine

DOI  :  10.1016/j.scr.2022.102987

学科分类：生理学

来源: Academic Press

【 摘 要 】

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.

【 授权许可】

CC BY|CC BY-NC-ND