Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control


MYH7 is a major gene responsible for hypertrophic cardiomyopathy (HCM). From patient's skin fibroblasts, we derived an iPSC line (CDGEN1.16) harboring the heterozygous MYH7 R403L mutation, a hot-spot codon in HCM. We subsequently corrected the mutated codon using CRISPR/Cas9 editing and obtained the isogenic control line (CDGEN1.16.40.5) preserving the genomic background of the patient. Both lines were pluripotent and could be efficiently committed to beating cardiomyocytes (CM) suitable for subsequent cell or pseudo-tissue study of HCM pathology. Copyright © 2021. Published by Elsevier B.V.

Authors Fontaine V, Duboscq-Bidot L, Jouve C, Hamlin M, Curjol A, Briand V, Janiak P, Hulot JS, Pruniaux-Harnist MP, Charron P, Villard E
Journal Stem cell research
Publication Date 2021 Apr;52:102245
PubMed 33610018
DOI 10.1016/j.scr.2021.102245

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