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

Stem cell research - 1 Apr 2021

Fontaine Vincent, Duboscq-Bidot Laetitia, Jouve Charlène, Hamlin Matthieu, Curjol Angélique, Briand Véronique, Janiak Philip, Hulot Jean-Sébastien, Pruniaux-Harnist Marie-Pierre, Charron Philippe, Villard Eric

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33610018
DOI: 10.1016/j.scr.2021.102245

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Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.PMID 33610018Read ↗

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