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Cellosaurus ND42496 (CVCL_EZ79)

[Text version]
Cell line name ND42496
Accession CVCL_EZ79
Resource Identification Initiative To cite this cell line use: ND42496 (RRID:CVCL_EZ79)
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:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (NHCDR=ND42496).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 57Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; ND42496
Encyclopedic resources Wikidata; Q54930229
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13