Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)
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 profou...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612300065X |
| _version_ | 1797816077195935744 |
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| author | Liani G. Devito Valentina M. Lionello Francesco Muntoni Francesco Saverio Tedesco Lyn Healy |
| author_facet | Liani G. Devito Valentina M. Lionello Francesco Muntoni Francesco Saverio Tedesco Lyn Healy |
| author_sort | Liani G. Devito |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T08:32:20Z |
| format | Article |
| id | doaj.art-cfaa9962540c4c82827e55ec27efcc0e |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-13T08:32:20Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-cfaa9962540c4c82827e55ec27efcc0e2023-05-31T04:44:06ZengElsevierStem Cell Research1873-50612023-06-0169103079Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)Liani G. Devito0Valentina M. Lionello1Francesco Muntoni2Francesco Saverio Tedesco3Lyn Healy4Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UKStem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, London, UK; Department of Cell and Developmental Biology, University College London, London, UKDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UKStem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, London, UK; Department of Cell and Developmental Biology, University College London, London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK; Corresponding authors at: The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK (F.S. Tedesco).Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK; Corresponding authors at: The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK (F.S. Tedesco).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.http://www.sciencedirect.com/science/article/pii/S187350612300065X |
| spellingShingle | Liani G. Devito Valentina M. Lionello Francesco Muntoni Francesco Saverio Tedesco Lyn Healy Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) Stem Cell Research |
| title | Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) |
| title_full | Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) |
| title_fullStr | Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) |
| title_full_unstemmed | Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) |
| title_short | Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) |
| title_sort | generation of an mtm1 mutant ipsc line cricki008 a from an individual with x linked myotubular myopathy xlmtm |
| url | http://www.sciencedirect.com/science/article/pii/S187350612300065X |
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