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Cellosaurus ND30364 (CVCL_EY67)

[Text version]
Cell line name ND30364
Accession CVCL_EY67
Resource Identification Initiative To cite this cell line use: ND30364 (RRID:CVCL_EY67)
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.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Unspecified (NHCDR=ND30364).
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 Female
Age at sampling 66Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND30364 - Discontinued
NHCDR; ND30364 - Discontinued
Encyclopedic resources Wikidata; Q54929359
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14