ID   XP11BE LCL
AC   CVCL_L460
SY   Xeroderma Pigmentosum 11 BEthesda LCL; CS4BE LCL; XP-CS-1 LCL; GM02252; GM-2252; GM 2252; GM2252; GM02252A
DR   CLO; CLO_0032152
DR   BioSample; SAMN00807634
DR   Coriell; GM02252
DR   JCRB; KURB1044
DR   Wikidata; Q54837392
RX   CelloPub=CLPUB00447;
RX   PubMed=1702221;
RX   PubMed=6096450;
RX   PubMed=8327515;
RX   PubMed=11841555;
RX   PubMed=16947863;
CC   Population: Caucasian.
CC   HLA typing: A*w24,w32; B*12,w40 (Coriell=GM02252).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (PubMed=16947863).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (PubMed=16947863).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_U690 ! XP11BE
SX   Female
AG   31Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 19
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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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
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RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
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).
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RX   PubMed=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923;
RA   Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R.;
RT   "DNA excision-repair defect of xeroderma pigmentosum prevents removal
RT   of a class of oxygen free radical-induced base lesions.";
RL   Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993).
//
RX   PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x;
RA   Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.;
RT   "The founding members of xeroderma pigmentosum group G produce XPG
RT   protein with severely impaired endonuclease activity.";
RL   J. Invest. Dermatol. 118:344-351(2002).
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RX   PubMed=16947863; DOI=10.1002/humu.20392;
RA   Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R.,
RA   Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A.,
RA   Baker C.C., Kraemer K.H.;
RT   "Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3):
RT   xeroderma pigmentosum without and with Cockayne syndrome.";
RL   Hum. Mutat. 27:1092-1103(2006).
//