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Cellosaurus ND41014 (CVCL_EZ69)

[Text version]
Cell line name ND41014
Accession CVCL_EZ69
Resource Identification Initiative To cite this cell line use: ND41014 (RRID:CVCL_EZ69)
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:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Homozygous (NHCDR=ND41014).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 59Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; ND41014
Encyclopedic resources Wikidata; Q54930190
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13