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Cellosaurus ND42497 (CVCL_EZ80)

[Text version]
Cell line name ND42497
Accession CVCL_EZ80
Resource Identification Initiative To cite this cell line use: ND42497 (RRID:CVCL_EZ80)
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:6893; MAPT; Simple; c.1920+16C>T (c.2091+16C>T) (c.1866+16C>T) (c.915+16C>T) (c.828+16C>T) (IVS10+16C>T); ClinVar=VCV000098222; Zygosity=Unspecified (NHCDR=ND42497).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 34Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; ND42497
Encyclopedic resources Wikidata; Q54930230
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14