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

Abstract : 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.
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Submitted on : Friday, April 16, 2021 - 4:18:33 PM
Last modification on : Thursday, November 18, 2021 - 12:04:03 PM
Long-term archiving on: : Saturday, July 17, 2021 - 7:01:47 PM

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Vincent Fontaine, Laetitia Duboscq-Bidot, Charlène Jouve, Matthieu Hamlin, Angélique Curjol, et al.. Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control. Stem Cell Research, Elsevier, 2021, 52, pp.102245. ⟨10.1016/j.scr.2021.102245⟩. ⟨hal-03200553⟩

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