Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau, Manon Baudic, Estelle Baron, Anne Bibonne, Caroline Chariau, Florence Kyndt, Richard Redon, Jean-Jacques Schott, Jean-Baptiste Gourraud, Julien Barc, Flavien Charpentier
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 the patient's hiPSC line and introduced the mutation in an hiPSC line from a control individual unrelated to the patient...
March 21, 2024: Stem Cell Research