iNeu Microglia AD TREM2 HO, Disease Model
Microglia Alzheimer's Disease differentiated from Human iPS cells, frozen
Microglial dysfunction is considered a key factor in neurodegenerative diseases, including Alzheimer's disease (AD). The limited availability and inconsistency of primary Human microglia limit research and treatment progress.
A rare variant of TREM2 (trigger receptor 2 expressed on bone marrow cells), an immune receptor expressed on microglia, is known to trigger bacterial phagocytosis and the release of reactive oxygen species, and is associated with AD patients The increased risk is related. Most TREM2 mutations found in AD risk variants are heterozygous mutations that affect TREM2 ligand binding or shedding of extracellular domains. The loss-of-function mutations of TREM2 and adaptor protein TYROBP are also related to the development of Nasu-Hakola disease, which is an inflammatory degenerative disease of the brain and bones, leading to premature dementia and death.
Engineering TREM2 model
In order to be able to study the functional consequences of TREM2 variants, the frameshift of TREM2 exon 2 is at amino acids near either allele (heterozygous; C60MfsTer45; iNeu Microglia TREM2 HZ) or two alleles (homozygous; P59AfsTer16 and P59AfsTer46) HO00) is designed in iPSCs. These iPSCs come from an apparently healthy and normal donor background, 01279.
Genotype: TREM2 (KO)