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Cellosaurus ND40071 (CVCL_EZ48)

[Text version]
Cell line name ND40071
Accession CVCL_EZ48
Resource Identification Initiative To cite this cell line use: ND40071 (RRID:CVCL_EZ48)
Comments Population: Caucasian.
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.Arg406Trp (c.1216C>T); ClinVar=VCV000014247; Zygosity=Unspecified (NHCDR=ND40071).
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)
Hierarchy Children:
CVCL_RH64 (ND40071E11)
Sex of cell Male
Age at sampling 67Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40071 - Discontinued
NHCDR; ND40071
Encyclopedic resources Wikidata; Q54930152
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11