Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)

Liani G Devito; Valentina M Lionello; Francesco Muntoni; Francesco Saverio Tedesco; Lyn Healy

doi:10.1016/j.scr.2023.103079

Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)

Stem Cell Res. 2023 Jun:69:103079. doi: 10.1016/j.scr.2023.103079. Epub 2023 Mar 21.

Authors

Liani G Devito¹, Valentina M Lionello², Francesco Muntoni³, Francesco Saverio Tedesco⁴, Lyn Healy⁵

Affiliations

¹ Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK.
² Stem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, London, UK; Department of Cell and Developmental Biology, University College London, London, UK.
³ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
⁴ Stem 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. Electronic address: saverio.tedesco@crick.ac.uk.
⁵ Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: lyn.healy@crick.ac.uk.

PMID: 36989620
DOI: 10.1016/j.scr.2023.103079

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Nucleus
Humans
Induced Pluripotent Stem Cells*
Muscle Fibers, Skeletal
Muscle, Skeletal
Mutation / genetics
Myopathies, Structural, Congenital* / genetics