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
Summary
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. These hiPSC lines represent useful models for delving into the mechanisms of desminopathy and developing new therapeutic approaches. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Geryk M, Canac R, Forest V, Lindenbaum P, Girardeau A, Baudic M, Baron E, Bibonne A, Chariau C, Kyndt F, Redon R, Schott JJ, Gourraud JB, Barc J, Charpentier F |
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| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103396 |
| PubMed | 38522388 |
| DOI | 10.1016/j.scr.2024.103396 |