ID   NH50374
AC   CVCL_C0ME
DR   NHCDR; NH50374
DR   Wikidata; Q114312506
CC   Population: Caucasian.
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 (NHCDR=NH50374).
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   Female
AG   44Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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