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Cellosaurus GM02796 (CVCL_F484)

[Text version]
Cell line name GM02796
Synonyms GM 2796; GM2796
Accession CVCL_F484
Resource Identification Initiative To cite this cell line use: GM02796 (RRID:CVCL_F484)
Comments Population: African American.
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.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (Coriell=GM02796).
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (Coriell=GM02796).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_2779 ! CHP 4 (W.W.)
CVCL_F483 ! GM01908
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Publications

PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991)

PubMed=2011574; DOI=10.1073/pnas.88.7.2633; PMCID=PMC51292
Reichardt J.K.V., Woo S.L.C.
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991)

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; GM02796
Cell line databases/resources CLO; CLO_0014777
Biological sample resources BioSample; SAMN00808120
Encyclopedic resources Wikidata; Q54837691
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number20