ID   NH50327
AC   CVCL_B6HK
DR   NHCDR; NH50327
DR   Wikidata; Q112129422
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple_corrected; p.Ala9Asp (c.26C>A); ClinVar=VCV000016013; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50327).
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)
HI   CVCL_A9RN ! NH50293
SX   Female
AG   50-59Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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