UK Dementia Research Institute, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
UK Dementia Research Institute, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Stem Cell Res. 2021 Apr;52:102246. doi: 10.1016/j.scr.2021.102246. Epub 2021 Feb 12.
Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3-5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.
肌萎缩侧索硬化症（ALS）的特征是上下运动神经元退化，导致逐渐瘫痪，并在诊断后 3-5 年内死亡。已经在多个基因中鉴定出 ALS 致病突变，包括融合肉瘤（FUS），以及最近被描述的膜联蛋白 A11（ANXA11）。我们从六个 ALS 患者的淋巴母细胞系中衍生出诱导多能干细胞（iPSC）系，其中三个带有 FUS 突变（Q519E、R521H、R522G），三个带有 ANXA11 突变（G38R、D40G、R235Q）。这些系已被表征，并为研究 ALS 病理学提供了一种新的资源。
