ID   ND50017
AC   CVCL_EZ94
DR   NHCDR; ND50017
DR   SKIP; SKIP001618
DR   Wikidata; Q54930250
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Met1Ile (c.3G>A); ClinVar=VCV000016009; Zygosity=Unspecified (from parent cell line).
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_EY30 ! ND42493
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
//