ID   ND42497
AC   CVCL_EZ80
DR   NHCDR; ND42497
DR   Wikidata; Q54930230
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; c.1920+16C>T (c.2091+16C>T) (c.1866+16C>T) (c.915+16C>T) (c.828+16C>T) (IVS10+16C>T); ClinVar=VCV000098222; Zygosity=Unspecified (NHCDR=ND42497).
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_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
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