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Cellosaurus GM02795 (CVCL_F027)

[Text version]
Cell line name GM02795
Synonyms GM 2795; GM2795; GM02795A
Accession CVCL_F027
Resource Identification Initiative To cite this cell line use: GM02795 (RRID:CVCL_F027)
Comments Population: Caucasian.
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.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (PubMed=2011574).
  • Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (PubMed=2011574).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D342 ! GM00054
CVCL_F026 ! GM01907
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=1766867; DOI=10.1093/nar/19.25.7049
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
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM02795
Cell line databases/resources CLO; CLO_0014778
Biological sample resources BioSample; SAMN00808119
Encyclopedic resources Wikidata; Q54837690
Entry history
Entry creation22-Oct-2012
Last entry update02-May-2024
Version number19