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Cellosaurus ND40076 (CVCL_EZ52)

[Text version]
Cell line name ND40076
Accession CVCL_EZ52
Resource Identification Initiative To cite this cell line use: ND40076 (RRID:CVCL_EZ52)
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; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Unspecified (NHCDR=ND40076).
Disease Frontotemporal dementia (NCIt: C84719)
Parkinson's disease (NCIt: C26845)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40076 - Discontinued
NHCDR; ND40076
Encyclopedic resources Wikidata; Q54930157
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number15