ID   GM29751
AC   CVCL_F1AB
DR   Coriell; GM29751
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Arg798Trp (c.2392C>T) (p.Arg406Trp, c.1216C>T or p.Arg723Trp, c.2167C>T); ClinVar=VCV000014247; Zygosity=Heterozygous (Coriell=GM29751).
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   Female
AG   42Y
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//