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Cellosaurus CS3BE LCL (CVCL_F633)

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Cell line name CS3BE LCL
Synonyms Cockayne Syndrome 3 BEthesda LCL; GM01857; GM-1857; GM 1857; GM01857A
Accession CVCL_F633
Resource Identification Initiative To cite this cell line use: CS3BE LCL (RRID:CVCL_F633)
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; HGNC:3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (from autologous cell line CS3BE).
  • Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Ala160Val (c.479C>T); ClinVar=VCV000001717; Zygosity=Heterozygous (from autologous cell line CS3BE).
HLA typing Source: Coriell=GM01857
Class I
HLA-AA*09,11
HLA-BB*07,w15
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F632 ! CS3BE
Sex of cell Male
Age at sampling 13Y
Category Transformed cell line
Publications

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins;
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM01857
Cell line databases/resources CLO; CLO_0031392
Biological sample resources BioSample; SAMN00807231
Encyclopedic resources Wikidata; Q54837130
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number21