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Cellosaurus ND42485 (CVCL_EZ73)

[Text version]
Cell line name ND42485
Accession CVCL_EZ73
Resource Identification Initiative To cite this cell line use: ND42485 (RRID:CVCL_EZ73)
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.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Unspecified (NHCDR=ND42485).
Disease Frontotemporal dementia (NCIt: C84719)
Frontotemporal dementia (ORDO: Orphanet_282)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; ND42485
Encyclopedic resources Wikidata; Q54930222
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number15