Abstract |
Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber. One of CNM is the X-Linked Myotubular Myopathy, caused by mutations in the myotubularin (MTM1) gene ( XLMTM), characterised by profound muscle hypotonia and weakness, severe bulbar and respiratory involvement. Here, we generated an induced pluripotent stem cell (iPSC) line from a patient with a severe form of XLMTM. Dermal fibroblasts were reprogrammed to pluripotency using a non-integrating mRNA-based protocol. This new MTM1-mutant iPSC line could facilitate disease-modelling and therapy development studies for XLMTM.
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Authors | Liani G Devito, Valentina M Lionello, Francesco Muntoni, Francesco Saverio Tedesco, Lyn Healy |
Journal | Stem cell research
(Stem Cell Res)
Vol. 69
Pg. 103079
(06 2023)
ISSN: 1876-7753 [Electronic] England |
PMID | 36989620
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2023. Published by Elsevier B.V. |
Topics |
- Humans
- Induced Pluripotent Stem Cells
- Muscle Fibers, Skeletal
- Mutation
(genetics)
- Myopathies, Structural, Congenital
(genetics)
- Cell Nucleus
- Muscle, Skeletal
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