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- W4328102489 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." @default.
- W4328102489 created "2023-03-22" @default.
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- W4328102489 date "2023-06-01" @default.
- W4328102489 modified "2023-09-25" @default.
- W4328102489 title "Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)" @default.
- W4328102489 cites W3138784639 @default.
- W4328102489 doi "https://doi.org/10.1016/j.scr.2023.103079" @default.
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