Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

Sangkyun Cho; Chelsea Lee; Celine Lai; Yan Zhuge; Francois Haddad; Michael Fowler; Karim Sallam; Joseph C Wu

doi:10.1016/j.scr.2022.102657

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

Stem Cell Res. 2022 Mar:59:102657. doi: 10.1016/j.scr.2022.102657. Epub 2022 Jan 3.

Authors

Sangkyun Cho¹, Chelsea Lee¹, Celine Lai¹, Yan Zhuge², Francois Haddad³, Michael Fowler³, Karim Sallam³, Joseph C Wu⁴

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.
³ Department of Medicine, Division of Cardiology, Stanford University School of Medicine, Stanford, CA 94305, USA.
⁴ 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 (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber 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.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM.

Abstract

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