ID   CS2BE LCL
AC   CVCL_L458
SY   Cockayne Syndrome 2 BEthesda LCL; GM01712; GM-1712; GM 1712; GM1712; GM01712A
DR   CLO; CLO_0030988
DR   BioSample; SAMN00807099
DR   Coriell; GM01712
DR   Wikidata; Q54837029
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2805228;
RX   PubMed=3180052;
RX   PubMed=6096450;
CC   Population: Caucasian.
CC   HLA typing: A*w32,10; B*w15,14 (Coriell=GM01712).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Ser222Tyrfs*25 (c.665_723del59) (Ex10del); Zygosity=Heterozygous (Coriell=GM01712).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Tyr1179Ilefs*22 (c.3535delT); Zygosity=Heterozygous (Coriell=GM01712).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7314 ! CS2BE
SX   Male
AG   21Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 19
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=2805228; DOI=10.1093/carcin/10.11.2067;
RA   Arita I., Tachibana A., Takebe H., Tatsumi K.;
RT   "Predominance of Mex+ cells in newly-established human lymphoblastoid
RT   cell lines.";
RL   Carcinogenesis 10:2067-2073(1989).
//
RX   PubMed=3180052;
RA   Lehmann A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
RT   "Relation between the human fibroblast strain 46BR and cell lines
RT   representative of Bloom's syndrome.";
RL   Cancer Res. 48:6343-6347(1988).
//
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).
//