Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

Marisa Ofrim; Daniel Little; Mina Nazari; Christopher J. Minnis; Michael J. Devine; Sara E. Mole; Paul Gissen; Maëlle Lorvellec

Stem Cell Research (Feb 2024)

Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

Marisa Ofrim,
Daniel Little,
Mina Nazari,
Christopher J. Minnis,
Michael J. Devine,
Sara E. Mole,
Paul Gissen,
Maëlle Lorvellec

Affiliations

Marisa Ofrim: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK
Daniel Little: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK
Mina Nazari: Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK
Christopher J. Minnis: Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK
Michael J. Devine: Department of Neuroscience, Physiology, and Pharmacology, University College London, London WC1E 6BT, UK
Sara E. Mole: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK
Paul Gissen: Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK; Corresponding author at: Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Maëlle Lorvellec: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK

Journal volume & issue: Vol. 74
p. 103291

Abstract

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The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pathways, such as CLN5, a potential lysosomal enzyme. Two induced pluripotent stem cell lines (hiPSCs) were generated from skin fibroblasts of CLN5 disease patients via non-integrating Sendai virus reprogramming. They demonstrate typical stem cell morphology, express pluripotency markers, exhibit trilineage differentiation potential and also successfully differentiate into neurons. These hiPSCs represent a potential resource to model CLN5 disease in a human context and investigate potential therapies.

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

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