ID   ND42485
AC   CVCL_EZ73
DR   NHCDR; ND42485
DR   Wikidata; Q54930222
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Unspecified (NHCDR=ND42485).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
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   ORDO; Orphanet_282; Frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   52Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 15
//