Generation of an Induced Pluripotent Stem Cell Line from a Duchenne Muscular Dystrophy Patient Carrying the DMD p.Ser429Ter (c.1286C>G) Nonsense Mutation.

An induced pluripotent stem cell (iPSC) line was successfully generated from dermal fibroblasts of a patient with Duchenne muscular dystrophy (DMD) harboring the pathogenic nonsense variant c.1286C>G (p.Ser429Ter) in the DMD gene using non-integrating Sendai virus reprogramming. The iPSC clone exhibited typical pluripotent stem cell morphology, expressed key pluripotency markers (OCT4, SSEA4, NANOG, and TRA-1-60), and retained trilineage differentiation potential. The cell line had a normal karyotype, and elimination of reprogramming vectors (OCT3/4, SOX2, KLF4, and c-MYC) was confirmed. This isogenic cell model provides a valuable platform for investigating DMD pathogenesis associated with this specific mutation and for developing targeted therapeutic approaches, including CRISPR/Cas9-mediated gene correction.