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Cellosaurus ND50060 (CVCL_SA14)

[Text version]
Cell line name ND50060
Accession CVCL_SA14
Resource Identification Initiative To cite this cell line use: ND50060 (RRID:CVCL_SA14)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4601; GRN; Simple; p.Arg493Ter (c.1477C>T); ClinVar=VCV000016014; Zygosity=Unspecified (NHCDR=ND50060).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A9T4 (ND42499)
Sex of cell Male
Age at sampling 60Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50060
Encyclopedic resources Wikidata; Q54930282
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number12