Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients

Stem cell research

article

Arianne Caudal¹  Gema Mondejar-Parreño¹  Carlos D. Vera¹  Damon R. Williams¹  Sushma P. Shenoy¹  David Liang³  Joseph C. Wu¹ 

[1] Stanford Cardiovascular Institute, Stanford University School of Medicine;Cardiovascular Medicine, Stanford University School of Medicine;Department of Radiology, Stanford University School of Medicine

关键词: iPSC;    Stem cell;    Dilated cardiomyopathy;    Phospholamban;   

DOI  :  10.1016/j.scr.2022.102855

学科分类：生理学

来源: Academic Press

【 摘 要 】

Familial dilated cardiomyopathy (DCM) is among the most prevalent forms of inherited heart disease. Here, two human-induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) from DCM patients carrying different mutations in the phospholamban encoding-gene (PLN). Both iPSC lines exhibited normal morphology, karyotype, pluripotency marker expression, and differentiation into the three germ layers. These patient-specific iPSC lines serve as valuable in vitro models for DCM pathology caused by PLN mutations.

【 授权许可】

CC BY|CC BY-NC-ND