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Cellosaurus GM17822 (CVCL_IL04)

[Text version]
Cell line name GM17822
Accession CVCL_IL04
Resource Identification Initiative To cite this cell line use: GM17822 (RRID:CVCL_IL04)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15894; PANK2; Simple; p.Phe311Profs*16 (c.927_933delTGTCTTT) (7-BP del); Zygosity=Homozygous (Coriell=GM17822).
Disease Pantothenate kinase-associated neurodegeneration (NCIt: C84988)
Atypical pantothenate kinase-associated neurodegeneration (ORDO: Orphanet_216873)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17822
Cell line databases/resources CLO; CLO_0016514
Encyclopedic resources Wikidata; Q54849247
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number10