Description
Human iPSC-Derived Neural Stem Cells that have been genetically edited using CRISPR-Cas9 technology to introduce the R406W mutation (CGG>TGG) into the MAPT gene. This line is heterozygous for the R406W mutation where one allele contains the mutation and the other allele is wild type at the locus.
The R406W mutation in MAPT has been implicated in familial frontotemporal dementia and parkinsonism (Hutton et al., 1998; Behnam et al., 2015) and has been seen in patients with clinical presentation resembling Alzheimer's disease (Rademakers et al., 2003; Lindquist et al., 2008). The R406W mutation reduces the ability of MAPT/tau to bind to microtubules in vitro (Hong et al., 1998).