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Cellosaurus GM01808 (CVCL_2H25)

[Text version]
Cell line name GM01808
Synonyms GM-1808
Accession CVCL_2H25
Resource Identification Initiative To cite this cell line use: GM01808 (RRID:CVCL_2H25)
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; 1550; CBS; Simple; p.Ile278Thr (c.833T>C); ClinVar=VCV000000120; Zygosity=Heterozygous (PubMed=8528202).
HLA typing Source: Coriell=GM01808
Class I
HLA-AA*02,10
HLA-BB*12,27
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_2H03 ! GM00753
Sex of cell Male
Age at sampling 45Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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)

PubMed=8528202; DOI=10.1093/hmg/4.7.1155
Kruger W.D., Cox D.R.
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Hum. Mol. Genet. 4:1155-1161(1995)

Cross-references
Cell line collections (Providers) Coriell; GM01808
Cell line databases/resources CLO; CLO_0031040
Biological sample resources BioSample; SAMN00807201
Encyclopedic resources Wikidata; Q54837098
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number14