Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant

Chelsea Lee; Sangkyun Cho; Celine Lai; Sushma Shenoy; Randall Vagelos; Joseph C Wu

doi:10.1016/j.scr.2021.102638

Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant

Stem Cell Res. 2022 Mar:59:102638. doi: 10.1016/j.scr.2021.102638. Epub 2021 Dec 21.

Authors

Chelsea Lee¹, Sangkyun Cho¹, Celine Lai¹, Sushma Shenoy¹, Randall Vagelos¹, Joseph C Wu²

Affiliations

¹ Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University School of Medicine, Stanford, CA 94305, USA.
² Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: joewu@stanford.edu.

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.

Abstract

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