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Cellosaurus ND32974 (CVCL_EY88)

[Text version]
Cell line name ND32974
Accession CVCL_EY88
Resource Identification Initiative To cite this cell line use: ND32974 (RRID:CVCL_EY88)
Comments Population: Asian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Arg747Trp (c.2239C>T); ClinVar=VCV000006204; Zygosity=Homozygous (NHCDR=ND32974).
Disease Parkinson disease 14, autosomal recessive (NCIt: C201519)
Adult-onset dystonia-parkinsonism (ORDO: Orphanet_199351)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 24Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND32974 - Discontinued
NHCDR; ND32974
Encyclopedic resources Wikidata; Q54929632
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13