1. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients.
- Author
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Jiang L, Tracey TJ, Gill MK, Howe SL, Power DT, Bharti V, McCombe PA, Henderson RD, Steyn FJ, and Ngo ST
- Subjects
- Humans, Female, Male, Cell Line, Middle Aged, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis pathology, Amyotrophic Lateral Sclerosis metabolism, Induced Pluripotent Stem Cells metabolism, Frontotemporal Dementia genetics, Frontotemporal Dementia pathology, Frontotemporal Dementia metabolism, C9orf72 Protein genetics, C9orf72 Protein metabolism, Superoxide Dismutase-1 genetics, Superoxide Dismutase-1 metabolism
- Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Clinical heterogeneity and complex genetics pose challenges to understanding disease mechanisms and producing effective cures. To model clinical heterogeneity, we generated human induced pluripotent stem cells (iPSCs) from two sporadic ALS patients (sporadic ALS and sporadic ALS with frontotemporal dementia), two familial ALS patients (familial SOD1 mutation positive and familial C9orf72 repeat expansion positive), and four age- and sex-matched healthy controls. These iPSCs can be used to generate 2D and 3D in vitro models of ALS to investigate mechanisms of disease and screen for therapeutics., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Timothy J Tracey reports financial support was provided by Motor Neurone Disease Research Australia. Shyuan T Ngo reports financial support was provided by National Health and Medical Research Council. Shyuan T Ngo reports financial support was provided by Motor Neurone Disease Research Australia. Shyuan T Ngo reports financial support was provided by FightMND. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2024
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