Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition - Institut de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition Accéder directement au contenu
Article Dans Une Revue Stem Cell Research Année : 2022

Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition

Résumé

Mutations leading to haploinsufficiency in SCN5A, the gene encoding the cardiac sodium channel Na v 1.5 α-subunit, are involved in life-threatening cardiac disorders. Using CRISPR/Cas9-mediated genome edition, we generated here a human induced-pluripotent stem cell (hiPSC) line carrying a heterozygous mutation in exon 2 of SCN5A, which leads to apparition of a premature stop codon. SCN5A-clone 5 line maintained normal karyotype, morphology and pluripotency and differentiated into three germ layers. Cardiomyocytes derived from these hiPSCs would be a useful model for investigating channelopathies related to SCN5A heterozygous deficiency.
Fichier principal
Vignette du fichier
1-s2.0-S1873506122000290-main.pdf (2.44 Mo) Télécharger le fichier
Origine : Publication financée par une institution

Dates et versions

hal-03549731 , version 1 (31-01-2022)

Identifiants

Citer

Marie Gizon, Laëtitia Duboscq-Bidot, Lina El Kassar, Pierre Bobin, Flavie Ader, et al.. Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition. Stem Cell Research, 2022, 60, pp.102680. ⟨10.1016/j.scr.2022.102680⟩. ⟨hal-03549731⟩
131 Consultations
112 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More