HighQC™ Human IPSC-Derived Neural Stem Cell LRRK2 G2019S HOM

Description

Human 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 homozygous for the G2019S mutation so both alleles contain the mutation.

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).