ID   ND02380
AC   CVCL_IZ55
DR   Coriell; ND02380
DR   Wikidata; Q54910285
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 (Coriell=ND02380).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   42Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 10-04-25; Version: 13
//