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

Stem Cell Research (Jun 2023)

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

Affiliations

Liani G. Devito: Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK
Valentina M. Lionello: Stem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, London, UK; Department of Cell and Developmental Biology, University College London, London, UK
Francesco Muntoni: Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
Francesco Saverio Tedesco: 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; Corresponding authors at: The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK (F.S. Tedesco).
Lyn Healy: 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).

Journal volume & issue: Vol. 69
p. 103079

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal