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Description
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. Click on the product images to see the data and further details.
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).
Product Specification
Starting material
Dermal fibroblast
Donor gender
Female
Donor age at sampling
64 yrs
Karyotype
Normal
Reprogramming method
Episomal vector
Induction method
Monolayer & chemically defined medium
Genetic modification
Homozygous for the LRRK2 G2019S mutation (GGC>AGC)
Genetic modification
Contains a puromycin resistance cassette (intronic)
Size
≥1.5 million cells
Kit components
1 vial of axolGEM Neural Stem Cells (≥1.5 million cells) and 1 bottle of Plating-XF Medium (30 mL)
Thaler A, Ash E, Gan-Or Z et al. The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. Journal of Neural Transmission (2009)
West AB, Moore DJ, Biskup S et al. Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci USA (2005)
Di Fonzo A, Tassorelli C, De Mari M et al: Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet (2006)
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. Click on the product images to see the data and further details.
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).
Read nowThaler A, Ash E, Gan-Or Z et al. The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. Journal of Neural Transmission (2009)
Read nowWest AB, Moore DJ, Biskup S et al. Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci USA (2005)
Read nowDi Fonzo A, Tassorelli C, De Mari M et al: Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet (2006)
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