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Cellosaurus GM17881 (CVCL_0R46)

[Text version]
Cell line name GM17881
Accession CVCL_0R46
Resource Identification Initiative To cite this cell line use: GM17881 (RRID:CVCL_0R46)
Comments Population: Caucasian; Flemish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18817; HPS6; Simple; p.Leu572Alafs*40 (c.1714_1717delCTGT); ClinVar=VCV000003151; Zygosity=Homozygous (Coriell=GM17881).
Disease Hermansky-Pudlak syndrome 6 (NCIt: C150369)
Hermansky-Pudlak syndrome without pulmonary fibrosis (ORDO: Orphanet_231512)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17881
Cell line databases/resources CLO; CLO_0016143
Encyclopedic resources Wikidata; Q54849297
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14