ID   CS3BE LCL
AC   CVCL_F633
SY   Cockayne Syndrome 3 BEthesda LCL; GM01857; GM-1857; GM 1857; GM01857A
DR   CLO; CLO_0031392
DR   BioSample; SAMN00807231
DR   Coriell; GM01857
DR   Wikidata; Q54837130
RX   CelloPub=CLPUB00447;
RX   PubMed=6096450;
CC   Population: Caucasian.
CC   HLA typing: A*09,11; B*07,w15 (Coriell=GM01857).
CC   Sequence variation: Mutation; HGNC; 3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (from autologous cell line CS3BE).
CC   Sequence variation: Mutation; HGNC; 3439; ERCC8; Simple; p.Ala160Val (c.479C>T); ClinVar=VCV000001717; Zygosity=Heterozygous (from autologous cell line CS3BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F632 ! CS3BE
SX   Male
AG   13Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 02-05-24; Version: 20
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
//