Work

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

Year: 2021

Type: article

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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2021.102638

Authors: Chelsea Lee, Sangkyun Cho, Celine Lai, Sushma Shenoy, Randall Vagelos, Joseph C. Wu

Institutions: Stanford Medicine, Stanford Cardiovascular Institute, Stanford University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,100