Accueil / N. NEYROUD – Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition. Stem Cell Res. 2022 Apr;60:102680.

N. NEYROUD – Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition. Stem Cell Res. 2022 Apr;60:102680.

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

Gizon M, Duboscq-Bidot L, El Kassar L, Bobin P, Ader F, Giraud-Triboult K, Charron P, Villard E, Fontaine V, Neyroud N.

Stem Cell Res. 2022 Apr;60:102680.

PMID: 35093717

doi: 10.1016/j.scr.2022.102680

Abstract

Mutations leading to haploinsufficiency in SCN5A, the gene encoding the cardiac sodium channel Na_v1.5 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.