期刊
BIOMEDICINES
卷 10, 期 6, 页码 -出版社
MDPI
DOI: 10.3390/biomedicines10061428
关键词
limb girdle muscular dystrophies; induced pluripotent stem cells; skeletal muscle cells; pathological modeling
资金
- Association Francaise contre les Myopathies (AFM-Telethon)
- INSERM
- domaine d'interet majeur (DIM) Biotherapies, universite Paris-Saclay, Genopole
- European Commission
This study introduces a platform for modeling LGMD using hiPSC, providing a renewable and alternative source of skMC for studying LGMD.
Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although the link between LGMD and its genetic origins has been determined, LGMD still represent an unmet medical need. Here, we describe a platform for modeling LGMD based on the use of human induced pluripotent stem cells (hiPSC). Thanks to the self-renewing and pluripotency properties of hiPSC, this platform provides a renewable and an alternative source of skeletal muscle cells (skMC) to primary, immortalized, or overexpressing cells. We report that skMC derived from hiPSC express the majority of the genes and proteins that cause LGMD. As a proof of concept, we demonstrate the importance of this cellular model for studying LGMDR9 by evaluating disease-specific phenotypes in skMC derived from hiPSC obtained from four patients.
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