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Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.

Stem cell research - 1 Jun 2024

Geryk Michelle, Canac Robin, Forest Virginie, Lindenbaum Pierre, Girardeau Aurore, Baudic Manon, Baron Estelle, Bibonne Anne, Chariau Caroline, Kyndt Florence, Redon Richard, Schott Jean-Jacques, Gourraud Jean-Baptiste, Barc Julien, Charpentier Flavien

Abstract excerpt

Mutations in the DES gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects and arrhythmias. We generated human induced pluripotent stem cells (hiPSC) from a patient carrying the DES p.R406W mutation, and employed CRISPR/Cas9 to rectify the mutation in...

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PMID: 38522388
DOI: 10.1016/j.scr.2024.103396

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