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Cellosaurus GM11763 (CVCL_1Y31)

[Text version]
Cell line name GM11763
Accession CVCL_1Y31
Resource Identification Initiative To cite this cell line use: GM11763 (RRID:CVCL_1Y31)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM11763).
  • Mutation; HGNC; 4135; GALT; Simple; p.Arg333Trp (c.997C>T); ClinVar=VCV000003610; Zygosity=Heterozygous (Coriell=GM11763).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM11763
Cell line databases/resources CLO; CLO_0021457
Encyclopedic resources Wikidata; Q54845249
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number16