人ipsc来源的神经干细胞LRRK2 G2019S HET

背景介绍/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技术对人类ipsc来源的神经干细胞进行基因编辑，引入LRRK2基因中的G2019S突变(ggc>AGC)。这一株G2019S突变是杂合的，其中一个等位基因包含突变，另一个等位基因在该位点是野生型。

LRRK2中的G2019S突变与常染色体显性家族性晚发帕金森病有关(Fonzo et al.， 2006, Thaler et al.， 2009)。G2019S突变增加LRRK2的激酶活性，导致自磷酸化和底物磷酸化增加，可能影响帕金森病患者神经细胞的健康(West et al.， 2005)。

动物种别/Organism  人

组织来源 Tissue and Cell Type 神经干细胞

形态/Morphology 贴壁生长

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