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

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 induced pluripotent stem cells (iPSC) from a patient carrying the DES p.R406W mutation, and employed CRISPR/Cas9 to rectify the mutation in the patient's iPSC line and introduced the mutation in an iPSC line from a control individual unrelated to the patient. These iPSC lines represent useful models for delving into the mechanisms of desminopathy and developing new therapeutic approaches.