Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients

Leanne Jiang; Timothy J Tracey; Melinder K Gill; Stephanie L Howe; Dominique T Power; Vanda Bharti; Pamela A McCombe; Robert D Henderson; Frederik J Steyn; Shyuan T Ngo

doi:10.1016/j.scr.2024.103447

Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients

Stem Cell Res. 2024 Aug:78:103447. doi: 10.1016/j.scr.2024.103447. Epub 2024 May 23.

Authors

Affiliations

¹ Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia; Perron Institute for Neurological and Translational Science, Perth, Australia; School of Biological Sciences, University of Western Australia, Perth, Australia. Electronic address: [email protected].
² Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia.
³ School of Biomedical Sciences, The University of Queensland, Brisbane, Australia.
⁴ Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
⁵ Department of Neurology, Royal Brisbane & Women's Hospital, Brisbane, Australia; Centre for Clinical Research, The University of Queensland, Brisbane, Australia.
⁶ School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Department of Neurology, Royal Brisbane & Women's Hospital, Brisbane, Australia.
⁷ Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia; Department of Neurology, Royal Brisbane & Women's Hospital, Brisbane, Australia. Electronic address: [email protected].

PMID: 38796984
DOI: 10.1016/j.scr.2024.103447

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.

MeSH terms

Amyotrophic Lateral Sclerosis* / genetics
Amyotrophic Lateral Sclerosis* / metabolism
Amyotrophic Lateral Sclerosis* / pathology
C9orf72 Protein* / genetics
C9orf72 Protein* / metabolism
Cell Line
Female
Frontotemporal Dementia* / genetics
Frontotemporal Dementia* / metabolism
Frontotemporal Dementia* / pathology
Humans
Induced Pluripotent Stem Cells* / metabolism
Male
Middle Aged
Superoxide Dismutase-1* / genetics
Superoxide Dismutase-1* / metabolism

Substances

C9orf72 Protein
Superoxide Dismutase-1
C9orf72 protein, human
SOD1 protein, human