ID   NH50229
AC   CVCL_YQ20
DR   NHCDR; NH50229
DR   Wikidata; Q98127679
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Arg418Ter (c.1252C>T); ClinVar=VCV000098177; Zygosity=Unspecified (NHCDR=NH50229).
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_YQ21 ! NH50230
OI   CVCL_YQ22 ! NH50231
SX   Male
AG   40-49Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 10
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