ID   NH50222
AC   CVCL_YQ02
DR   NHCDR; NH50222
DR   Wikidata; Q98127671
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Arg493Ter (c.1477C>T); ClinVar=VCV000016014; Zygosity=Unspecified (NHCDR=NH50222).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YQ00 ! NH50220
OI   CVCL_YQ01 ! NH50221
SX   Male
AG   50-59Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 10
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