Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Stem cell research, 2024-08, Vol.78 (C), p.103447, Article 103447

Ort / Verlag

England: Elsevier B.V

Erscheinungsjahr

2024

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.