Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control - Sorbonne Université Access content directly
Journal Articles Stem Cell Research Year : 2021

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

Véronique Briand
  • Function : Author
Philip Janiak
  • Function : Author
Marie-Pierre Pruniaux-Harnist
  • Function : Author

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.
Fichier principal
Vignette du fichier
villard.pdf (687.51 Ko) Télécharger le fichier
Origin : Publication funded by an institution

Dates and versions

hal-03200553 , version 1 (16-04-2021)

Identifiers

Cite

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, 2021, 52, pp.102245. ⟨10.1016/j.scr.2021.102245⟩. ⟨hal-03200553⟩
74 View
133 Download

Altmetric

Share

Gmail Facebook X LinkedIn More