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Cellosaurus NH50293 (CVCL_A9RN)

[Text version]
Cell line name NH50293
Accession CVCL_A9RN
Resource Identification Initiative To cite this cell line use: NH50293 (RRID:CVCL_A9RN)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroblast; CL=CL_0000765.
Sequence variations
  • Mutation; HGNC; HGNC:4601; GRN; Simple; p.Ala9Asp (c.26C>A); ClinVar=VCV000016013; Zygosity=Heterozygous (NHCDR=NH50293).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B6HK (NH50327)CVCL_B6HL (NH50328)
Sex of cell Female
Age at sampling 50-59Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50293
Encyclopedic resources Wikidata; Q102114602
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number9