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.
Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia.
Stem Cell Res. 2024 Aug;78:103447. doi: 10.1016/j.scr.2024.103447. Epub 2024 May 23.
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.
肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病。临床异质性和复杂的遗传学给理解疾病机制和开发有效疗法带来了挑战。为了模拟临床异质性，我们从两名散发性 ALS 患者（散发性 ALS 和散发性 ALS 伴额颞叶痴呆）、两名家族性 ALS 患者（家族性 SOD1 突变阳性和家族性 C9orf72 重复扩展阳性）和四名年龄和性别匹配的健康对照中生成了人类诱导多能干细胞（iPSC）。这些 iPSC 可用于生成 ALS 的 2D 和 3D 体外模型，以研究疾病机制和筛选治疗方法。
