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Cellosaurus GM17431 (CVCL_1Y34)

[Text version]
Cell line name GM17431
Accession CVCL_1Y34
Resource Identification Initiative To cite this cell line use: GM17431 (RRID:CVCL_1Y34)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM17431).
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Leu195Pro (c.584T>C); ClinVar=VCV000025222; Zygosity=Heterozygous (Coriell=GM17431).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17431
Cell line databases/resources CLO; CLO_0012317
Encyclopedic resources Wikidata; Q54848868
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number15