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Human iPSC-Derived Neural Stem Cells that have been genetically edited using CRISPR-Cas9 technology to introduce the P301L mutation (CCG>CTG) into the MAPT gene. This line is heterozygous for the P301L mutation where one allele contains the mutation and the other allele is wild type at the locus. Click on the product images to see the data and further details.
The P301L mutation MAPT has been implicated in frontotemporal dementia and parkinsonism (Dumanchin et al., 1998). The mutation affects only the 4R isoforms of MAPT since the exon containing the mutation is spliced out of 3R isoforms (Hutton et al., 1998). Aggregated MAPT/tau protein in affected patients consisted mainly of the 4R isoform (Hutton et al., 1998). The P301L mutation promotes aggregation of MAPT/tau protein into ordered paired helical filaments and beta sheet formation in vitro (von Bergen et al., 2001).