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

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Gizon, Marie | Duboscq-Bidot, Laëtitia | El Kassar, Lina | Bobin, Pierre | Ader, Flavie | Giraud-Triboult, Karine | Charron, Philippe | Villard, Eric | Fontaine, Vincent | Neyroud, Nathalie

Edité par CCSD ; Elsevier -

International audience. 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.

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