HighQC™ Human IPSC-Derived Neural Stem Cell MAPT R406W HOM

Description

Human 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 homozygous for the R406W mutation so both alleles contain the mutation.
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).