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Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy

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Item Type:Article
Title:Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy
Creators Name:Warnecke, N. and Ulmer, B.M. and Laufer, S.D. and Shibamiya, A. and Krämer, E. and Neuber, C. and Hanke, S. and Behrens, C. and Loos, M. and Münch, J. and Kühnisch, J. and Klaassen, S. and Eschenhagen, T. and Patten-Hamel, M. and Carrier, L. and Mearini, G.
Abstract:MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem cells (iPSC) and used CRISPR/Cas9 to generate bi-allelic MYBPC3 truncating mutation and isogenic control hiPSC lines. All lines expressed pluripotency markers, had normal karyotype and differentiated into endoderm, ectoderm and cardiomyocytes in vitro. This set of three lines provides a useful tool to study HCM pathomechanisms.
Source:Stem Cell Research
ISSN:1873-5061
Publisher:Elsevier
Volume:55
Page Range:102489
Date:August 2021
Official Publication:https://doi.org/10.1016/j.scr.2021.102489
PubMed:View item in PubMed

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