Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control
| Autor: | Véronique Briand, Matthieu Hamlin, Eric Villard, Marie-Pierre Pruniaux-Harnist, Philippe Charron, Charlène Jouve, Angélique Curjol, Jean-Sébastien Hulot, Philip Janiak, L. Duboscq-Bidot, Vincent Fontaine |
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| Přispěvatelé: | Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
[SDV]Life Sciences [q-bio] Induced Pluripotent Stem Cells Cell Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Mutation Carrier medicine Humans CRISPR Myocytes Cardiac cardiovascular diseases lcsh:QH301-705.5 Mutation Myosin Heavy Chains Cas9 Hypertrophic cardiomyopathy Cell Biology General Medicine Cardiomyopathy Hypertrophic medicine.disease Major gene Molecular biology 3. Good health 030104 developmental biology medicine.anatomical_structure lcsh:Biology (General) cardiovascular system MYH7 CRISPR-Cas Systems Cardiac Myosins 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research Stem Cell Research, Elsevier, 2021, 52, pp.102245. ⟨10.1016/j.scr.2021.102245⟩ Stem Cell Research, Vol 52, Iss, Pp 102245-(2021) |
| ISSN: | 1873-5061 1876-7753 |
| DOI: | 10.1016/j.scr.2021.102245 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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