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Generation of Two Heterozygous MYBPC3 Mutation-carrying Human IPSC Lines, SCVIi001-A and SCVIi002-A, for Modeling Hypertrophic Cardiomyopathy

Overview
Journal Stem Cell Res
Publisher Elsevier
Specialty Cell Biology
Date 2021 Mar 20
PMID 33743363
Citations 7
Authors
Affiliations
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Abstract

Hypertrophic cardiomyopathy (HCM) is an inherited heart disease that can cause sudden cardiac death and heart failure. HCM often arises from mutations in sarcomeric genes, among which the MYBPC3 is the most frequently mutated. Here we generated two human induced pluripotent stem cell (iPSC) lines from a HCM patient who has a familial history of HCM and his daughter who carries the pathogenic non-coding mutation. All lines show the typical morphology of pluripotent cells, a high expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers. These lines provide a valuable resource for studying the molecular basis of HCM and drug screening for HCM.

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References
1.
Seeger T, Shrestha R, Lam C, Chen C, McKeithan W, Lau E . A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. Circulation. 2018; 139(6):799-811. PMC: 6443405. DOI: 10.1161/CIRCULATIONAHA.118.034624. View

2.
Marian A, Braunwald E . Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017; 121(7):749-770. PMC: 5654557. DOI: 10.1161/CIRCRESAHA.117.311059. View

3.
Morita H, Rehm H, Menesses A, McDonough B, Roberts A, Kucherlapati R . Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008; 358(18):1899-908. PMC: 2752150. DOI: 10.1056/NEJMoa075463. View

4.
Mosqueira D, Smith J, Bhagwan J, Denning C . Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention. Trends Mol Med. 2019; 25(9):775-790. DOI: 10.1016/j.molmed.2019.06.005. View

5.
Wu H, Yang H, Rhee J, Zhang J, Lam C, Sallam K . Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients. Eur Heart J. 2019; 40(45):3685-3695. PMC: 7963137. DOI: 10.1093/eurheartj/ehz326. View