Cellosaurus logo
expasy logo

Cellosaurus GM17436 (CVCL_1Y39)

[Text][XML][JSON]
Cell line name GM17436
Accession CVCL_1Y39
Resource Identification Initiative To cite this cell line use: GM17436 (RRID:CVCL_1Y39)
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.Leu74Pro (c.221T>C); ClinVar=VCV000003615; Zygosity=Heterozygous (Coriell=GM17436).
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM17436).
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; GM17436
Cell line databases/resources CLO; CLO_0012894
Encyclopedic resources Wikidata; Q54848873
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number15