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

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...

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Main Authors: Vincent Fontaine, Laetitia Duboscq-Bidot, Charlène Jouve, Matthieu Hamlin, Angélique Curjol, Véronique Briand, Philip Janiak, Jean-Sébastien Hulot, Marie-Pierre Pruniaux-Harnist, Philippe Charron, Eric Villard
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612100091X
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spelling doaj-897d8d238b4d403f92be9515966e4b132021-03-25T04:27:51ZengElsevierStem Cell Research1873-50612021-04-0152102245Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected controlVincent Fontaine0Laetitia Duboscq-Bidot1Charlène Jouve2Matthieu Hamlin3Angélique Curjol4Véronique Briand5Philip Janiak6Jean-Sébastien Hulot7Marie-Pierre Pruniaux-Harnist8Philippe Charron9Eric Villard10ICAN - Institute for Cardiometabolism and Nutrition, F-75013 Paris, FranceSorbonne Université, INSERM, UMR_S1166, AP-HP, Hôpital Pitié-Salpêtrière, F-75013 Paris, FranceUniversité de Paris, INSERM, PARCC, F-75006 Paris, FranceICAN - Institute for Cardiometabolism and Nutrition, F-75013 Paris, FranceAP-HP, Referral Center for Hereditary Heart Disease, Department of Genetics, Hôpital Pitié-Salpêtrière, F-75013 Paris, FranceSanofi R&D, Chilly-Mazarin, FranceSanofi R&D, Chilly-Mazarin, FranceUniversité de Paris, INSERM, PARCC, F-75006 Paris, FranceSanofi R&D, Chilly-Mazarin, FranceICAN - Institute for Cardiometabolism and Nutrition, F-75013 Paris, France; Sorbonne Université, INSERM, UMR_S1166, AP-HP, Hôpital Pitié-Salpêtrière, F-75013 Paris, France; AP-HP, Referral Center for Hereditary Heart Disease, Department of Genetics, Hôpital Pitié-Salpêtrière, F-75013 Paris, FranceICAN - Institute for Cardiometabolism and Nutrition, F-75013 Paris, France; Sorbonne Université, INSERM, UMR_S1166, AP-HP, Hôpital Pitié-Salpêtrière, F-75013 Paris, France; Corresponding author at: Sorbonne University Faculty of Medicine, INSERM UMRS1166, 91 Blvd de l’Hôpital, 75013 Paris, France.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.http://www.sciencedirect.com/science/article/pii/S187350612100091X
collection DOAJ
language English
format Article
sources DOAJ
author Vincent Fontaine
Laetitia Duboscq-Bidot
Charlène Jouve
Matthieu Hamlin
Angélique Curjol
Véronique Briand
Philip Janiak
Jean-Sébastien Hulot
Marie-Pierre Pruniaux-Harnist
Philippe Charron
Eric Villard
spellingShingle Vincent Fontaine
Laetitia Duboscq-Bidot
Charlène Jouve
Matthieu Hamlin
Angélique Curjol
Véronique Briand
Philip Janiak
Jean-Sébastien Hulot
Marie-Pierre Pruniaux-Harnist
Philippe Charron
Eric Villard
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
Stem Cell Research
author_facet Vincent Fontaine
Laetitia Duboscq-Bidot
Charlène Jouve
Matthieu Hamlin
Angélique Curjol
Véronique Briand
Philip Janiak
Jean-Sébastien Hulot
Marie-Pierre Pruniaux-Harnist
Philippe Charron
Eric Villard
author_sort Vincent Fontaine
title Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
title_short Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
title_full Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
title_fullStr Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
title_full_unstemmed Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
title_sort generation of ipsc line from myh7 r403l mutation carrier with severe hypertrophic cardiomyopathy and isogenic crispr/cas9 corrected control
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-04-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S187350612100091X
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