ID   ND40072
AC   CVCL_EZ49
DR   Coriell; ND40072
DR   NHCDR; ND40072
DR   Wikidata; Q54930154
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Arg406Trp (c.1216C>T); ClinVar=VCV000014247; Zygosity=Unspecified (NHCDR=ND40072).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
CC   Discontinued: Coriell; ND40072; true.
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   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
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