ID   XP20BE LCL
AC   CVCL_V576
SY   Xeroderma Pigmentosum 20 BEthesda LCL; AG08802
DR   CLO; CLO_0031382
DR   Coriell; AG08802
DR   Wikidata; Q54742488
RX   CelloPub=CLPUB00597;
RX   PubMed=8823375;
RX   PubMed=9447232;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu11Ter (c.31G>T); Zygosity=Heterozygous (PubMed=9447232).
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_V577 ! XP20BE
SX   Male
AG   1Y5M
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
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RX   PubMed=9447232; DOI=10.1016/S0921-8777(97)00031-1;
RA   Okinaka R.T., Perez-Castro A.V., Sena A., Laubscher K., Strniste G.F.,
RA   Park M.S., Hernandez R., MacInnes M.A., Kraemer K.H.;
RT   "Heritable genetic alterations in a xeroderma pigmentosum group
RT   G/Cockayne syndrome pedigree.";
RL   Mutat. Res. 385:107-114(1997).
//