ID   ND40076
AC   CVCL_EZ52
DR   Coriell; ND40076
DR   NHCDR; ND40076
DR   Wikidata; Q54930157
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=Unspecified (NHCDR=ND40076).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
CC   Discontinued: Coriell; ND40076; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 16
//