Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy
Ravichandra Venkateshappa1, Francesca Vacante1, Lingyun Xu2
1Stanford Cardiovascular Institute, Stanford University, School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University, School of Medicine, Stanford, CA 94305, USA.
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.
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