Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Venkateshappa R, Vacante F, Xu L, Canel-Rivero G, Day JW, Wu JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Sep;87:103794 |
| PubMed | 40773824 |
| DOI | 10.1016/j.scr.2025.103794 |