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Cellosaurus MAPT N279K-1 (CVCL_A4MZ)

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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-1 (NCIt: C217087)
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
Melissa C. Wren, Jing Zhao, Chia-Chen Liu, Melissa E. Murray, Yuka Atagi, Mary D. Davis, Yuan Fu, Hirotaka James Okano, Kotaro Ogaki, Audrey J. Strongosky, Pawel Tacik ...Show all 17 authors... , Rosa Rademakers, Owen A. Ross, Dennis W. Dickson, Zbigniew Kudzin Wszolek, Takahisa Kanekiyo, Guo-Jun Bu; Show fewer authors
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 update14-Aug-2025
Version number8