Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Stem Cell Res. 2021 May;53:102354. doi: 10.1016/j.scr.2021.102354. Epub 2021 Apr 15.
Mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with inherited forms of Parkinson's disease (PD), causing disease by a gain of kinase function. Here, we describe a series of isogenic iPSC lines with any of five pathogenic mutations (N1437H, R1441C, Y1699C, G2019S and I2020T); two hypothesis testing mutations (GTP binding null, T1348N, and kinase dead, K1906M) and two LRRK2 knockouts. This resource could be used to assess effects of mutations on the function of endogenous LRRK2 and/or to study LRRK2 interactors and substrates in iPSC-derived cellular models.
LRRK2 中的亮氨酸丰富重复激酶 2 突变(LRRK2)与帕金森病(PD)的遗传性形式有关,通过激酶功能的获得导致疾病。在这里,我们描述了一系列具有五种致病性突变(N1437H、R1441C、Y1699C、G2019S 和 I2020T)的同基因 iPSC 系;两种假设检验突变(GTP 结合缺失、T1348N 和激酶失活、K1906M)和两种 LRRK2 敲除。该资源可用于评估突变对内源性 LRRK2 功能的影响,或用于研究 iPSC 衍生细胞模型中的 LRRK2 相互作用物和底物。