ID   MAPT N279K-1
AC   CVCL_A4MZ
SY   N279K #1
DR   SKIP; SKIP001339
DR   Wikidata; Q105510005
RX   PubMed=26373282;
CC   Population: Caucasian.
CC   Sequence variation: 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).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=26373282; DOI=10.1186/s13024-015-0042-7; PMCID=PMC4572645;
RA   Wren M.C., Zhao J., Liu C.-C., Murray M.E., Atagi Y., Davis M.D.,
RA   Fu Y., Okano H.J., Ogaki K., Strongosky A.J., Tacik P., Rademakers R.,
RA   Ross O.A., Dickson D.W., Wszolek Z.K., Kanekiyo T., Bu G.-J.;
RT   "Frontotemporal dementia-associated N279K Tau mutant disrupts
RT   subcellular vesicle trafficking and induces cellular stress in
RT   iPSC-derived neural stem cells.";
RL   Mol. Neurodegener. 10:46.1-46.13(2015).
//