ID   ND43209
AC   CVCL_EZ88
SY   ND43209*C
DR   Coriell; ND43209
DR   NHCDR; ND43209
DR   SKIP; SKIP001577
DR   Wikidata; Q54930242
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Arg493Ter (c.1477C>T); ClinVar=VCV000016014; Zygosity=Unspecified (NHCDR=ND43209).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
CC   Discontinued: Coriell; ND43209; true.
CC   Discontinued: NHCDR; ND43209; 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   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9T4 ! ND42499
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 15
//