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Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy.

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy. Stem cell research Venkateshappa, R., Vacante, F., Xu, L., Canel-Rivero, G., Day, J. W., Wu, J. C. 2025; 87: 103794

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms. Here, we generated human induced pluripotent stem cell (iPSC) lines from two clinically diagnosed FSHD patients and characterized their pluripotency and germline markers. Both lines exhibited pluripotency markers, maintained normal karyotypes, and were capable of differentiating into all three germ layers. These iPSC lines are valuable resources for studying FSHD mechanisms and potential drug discovery applications.

View details for DOI 10.1016/j.scr.2025.103794

View details for PubMedID 40773824