Human MAPT (P301L/P301L) iPSC-derived Neural Stem Cells



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Technical Information
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 homozygous for the P301L mutation so both alleles contain the mutation. 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).

Technical Data

MAPT (P301L/P301L)
Functional Area
Neurodegenerative Disease
Genetic Modification
Gene Copy Number
MAPT: 2.04
SNP Frequency %
P301L: 99.95%

General Information

Growth Properties
Cell Number
1.5 x 106
Freeze Medium
Neural Expansion Medium (ax0030-500) with 10% DMSO
Method of Reprogramming
Gene Editing Modification
Contains a puromycin resistance cassette (intronic)

Donor Information

64 years old

Cell Culture

Biosafety Level
Biosafety Level 1
Cell Culture Image
Human MAPT (P301L/P301L) iPSC-derived Neural Stem Cells - Cell Culture Image
DNA sequencing of Human MAPT (P301L/P301L) iPSCs shows that both alleles contain the P301L mutation (CCG > CTG) at the locus. Silent mutations (underlined red) are introduced to prevent re-cutting of the gene edited region. These do not affect the amino acid sequence of the protein.
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