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. 2022 May:61:102774.
doi: 10.1016/j.scr.2022.102774. Epub 2022 Mar 31.

Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants

Amit Manhas  1 , James W S Jahng  1 , Carlos D Vera  1 , Sushma P Shenoy  1 , Joshua W Knowles  1 , Joseph C Wu  2
Affiliations

Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants

Amit Manhas et al. Stem Cell Res. 2022 May.

Abstract

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants.

Keywords: Hypertrophic cardiomyopathy; Induced pluripotent stem cells; MYBPC3; and PRKAG2.

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Figures

Fig. 1.
Fig. 1.
Characterization of iPSC lines derived from hypertrophic cardiomyopathy patients carrying MYBPC3 (c.459delC) and PRKAG2 (c.1703C>T) mutations.
See this image and copyright information in PMC

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