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Cellosaurus GM01463 (CVCL_2H18)

[Text version]
Cell line name GM01463
Synonyms GM-1463
Accession CVCL_2H18
Resource Identification Initiative To cite this cell line use: GM01463 (RRID:CVCL_2H18)
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.Ala331Val (c.992C>T); ClinVar=VCV000193793; Zygosity=Unspecified (PubMed=8528202).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (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; GM01463
Cell line databases/resources CLO; CLO_0030874
Biological sample resources BioSample; SAMN00803912
Encyclopedic resources Wikidata; Q54836848
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number13