ID   ND11267
AC   CVCL_GU01
DR   CLO; CLO_0018569
DR   Coriell; ND11267
DR   Wikidata; Q54923944
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Val337Met (c.1009G>A) (V654M, c.1960G>A or V672M, c.2014G>A); ClinVar=VCV000014252; Zygosity=Unspecified (Coriell=ND11267).
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   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   53Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
//