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

• Published in: Stem cell research Vol. 61; p. 102774
• Main Authors: Manhas, Amit, Jahng, James W.S., Vera, Carlos D., Shenoy, Sushma P., Knowles, Joshua W., Wu, Joseph C.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.05.2022; Elsevier
• Subjects: AMP-Activated Protein Kinases - genetics; and PRKAG2; Cardiomyopathy, Hypertrophic - pathology; Cytoskeletal Proteins - genetics; Heterozygote; Humans; Hypertrophic cardiomyopathy; Induced pluripotent stem cells; Induced Pluripotent Stem Cells - metabolism; Mutation; MYBPC3; MYBPC3; Hypertrophic cardiomyopathy; Induced pluripotent stem cells; and PRKAG2
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102774

•Two iPSC lines were generated from hypertrophic cardiomyopathy patients.•Each iPSC line carries two different heterozygous mutations in MYBPC3 (frameshift) and PRKAG2 (missense).•Both iPSC lines showed normal karyotype and high pluripotency.•These iPSC lines can provide a tool for modeling HCM in vitro. 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.