背景介紹/context：

Human iPSC-Derived Neural Stem Cells that have been genetically edited using CRISPR-Cas9 technology to introduce the G2019S mutation (GGC>AGC) in the LRRK2 gene. This line is heterozygous for the G2019S mutation where one allele contains the mutation and the other allele is wild type at the locus.

The G2019S mutation in LRRK2 has been implicated in autosomal-dominant familial Parkinson's disease with late onset (Fonzo et al., 2006, Thaler et al., 2009). The G2019S mutation increases the kinase activity of LRRK2 causing increased autophosphorylation and substrate phosphorylation that may affect neuronal cell health in Parkinson's disease patients (West et al., 2005). 

利用CRISPR-Cas9技術(shù)對人類ipsc來源的神經(jīng)干細胞進行基因編輯，引入LRRK2基因中的G2019S突變(ggc>AGC)。這一株G2019S突變是雜合的，其中一個等位基因包含突變，另一個等位基因在該位點是野生型。

LRRK2中的G2019S突變與常染色體顯性家族性晚發(fā)帕金森病有關(guān)(Fonzo et al.， 2006, Thaler et al.， 2009)。G2019S突變增加LRRK2的激酶活性，導(dǎo)致自磷酸化和底物磷酸化增加，可能影響帕金森病患者神經(jīng)細胞的健康(West et al.， 2005)。

動物種別/Organism  人

組織來源 Tissue and Cell Type 神經(jīng)干細胞

形態(tài)/Morphology 貼壁生長

注意事項：此產(chǎn)品僅供科研使用