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Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant. Stem cell research Lee, C., Cho, S., Lai, C., Shenoy, S., Vagelos, R., Wu, J. C. 1800; 59: 102638

Abstract

LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.1129C>T, in LMNA. All lines expressed normal iPSC morphology, high levels of pluripotent markers, normal karyotypes, and could differentiate into the three germ layers. These iPSC lines can serve as invaluable tools to model pathological mechanisms of DCM in vitro caused by LMNA mutations.

View details for DOI 10.1016/j.scr.2021.102638

View details for PubMedID 34954454