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Cellosaurus MAPT N279K-1 (CVCL_A4MZ)

[Text version]
Cell line name MAPT N279K-1
Synonyms N279K #1
Accession CVCL_A4MZ
Resource Identification Initiative To cite this cell line use: MAPT N279K-1 (RRID:CVCL_A4MZ)
Comments Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Heterozygous (PubMed=26373282).
Disease Frontotemporal dementia (NCIt: C84719)
Parkinson's disease (NCIt: C26845)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 48Y
Category Induced pluripotent stem cell
Publications

PubMed=26373282; DOI=10.1186/s13024-015-0042-7; PMCID=PMC4572645
Wren M.C., Zhao J., Liu C.-C., Murray M.E., Atagi Y., Davis M.D., Fu Y., Okano H.J., Ogaki K., Strongosky A.J., Tacik P., Rademakers R., Ross O.A., Dickson D.W., Wszolek Z.K., Kanekiyo T., Bu G.-J.
Frontotemporal dementia-associated N279K Tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells.
Mol. Neurodegener. 10:46.1-46.13(2015)

Cross-references
Cell line databases/resources SKIP; SKIP001339
Encyclopedic resources Wikidata; Q105510005
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6