ID   XP2BI
AC   CVCL_M223
SY   Xeroderma Pigmentosum 2 BIrmingham; GM03021; GM03021A; GM3021; GM3021A; GM03021B
DR   CLO; CLO_0012552
DR   Coriell; GM03021
DR   JCRB; KURB1104
DR   JCRB; KURB1105
DR   Wikidata; Q54837809
RX   CelloPub=CLPUB00447;
RX   PubMed=492197;
RX   PubMed=2175267;
RX   PubMed=2570806;
RX   PubMed=3010096;
RX   PubMed=3030788;
RX   PubMed=3341805;
RX   PubMed=3347209;
RX   PubMed=3922833;
RX   PubMed=4031543;
RX   PubMed=4066782;
RX   PubMed=6307543;
RX   PubMed=7067035;
RX   PubMed=7301938;
RX   PubMed=8317483;
RX   PubMed=8823375;
RX   PubMed=9584159;
RX   PubMed=11219864;
RX   PubMed=11841555;
RX   PubMed=18079351;
RX   PubMed=26184184;
CC   Sequence variation: Mutation; HGNC; 3437; ERCC5; Simple; p.Arg372Thrfs*5 (c.1115_1118delGGAA); ClinVar=VCV000016574; Zygosity=Heterozygous (PubMed=11841555).
CC   Sequence variation: Mutation; HGNC; 3437; ERCC5; Simple; p.Leu858Pro (c.2573T>C); ClinVar=VCV000016573; Zygosity=Heterozygous (PubMed=11841555).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 18
//
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=492197; DOI=10.1016/0027-5107(79)90231-8;
RA   Keijzer W., Jaspers N.G.J., Abrahams P.J., Taylor A.M.R., Arlett C.F.,
RA   Zelle B., Takebe H., Kinmont P.D.C., Bootsma D.;
RT   "A seventh complementation group in excision-deficient xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 62:183-190(1979).
//
RX   PubMed=2175267; DOI=10.1016/0014-4827(90)90012-Y;
RA   Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.;
RT   "Transformation and immortalization of diploid xeroderma pigmentosum
RT   fibroblasts.";
RL   Exp. Cell Res. 191:256-262(1990).
//
RX   PubMed=2570806; DOI=10.1111/1523-1747.ep12284030;
RA   Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M.,
RA   Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M.;
RT   "Somatic mosaicism for DNA repair capacity in fibroblasts derived from
RT   a group A xeroderma pigmentosum patient.";
RL   J. Invest. Dermatol. 93:460-465(1989).
//
RX   PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0;
RA   Barbis D.P., Schultz R.A., Friedberg E.C.;
RT   "Isolation and partial characterization of virus-transformed cell
RT   lines representing the A, G and variant complementation groups of
RT   xeroderma pigmentosum.";
RL   Mutat. Res. 165:175-184(1986).
//
RX   PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X;
RA   Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H.,
RA   Moses R.E.;
RT   "Transformation of DNA repair-deficient human diploid fibroblasts with
RT   a simian virus 40 plasmid.";
RL   Exp. Cell Res. 169:543-553(1987).
//
RX   PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021;
RA   Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.;
RT   "No apparent neurologic defect in a patient with xeroderma pigmentosum
RT   complementation group D.";
RL   Arch. Dermatol. 124:256-260(1988).
//
RX   PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x;
RA   Squires S., Johnson R.T.;
RT   "Kinetic analysis of UV-induced incision discriminates between
RT   fibroblasts from different xeroderma pigmentosum complementation
RT   groups, XPA heterozygotes and normal individuals.";
RL   Mutat. Res. 193:181-192(1988).
//
RX   PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162;
RA   Fujiwara Y., Satoh Y.;
RT   "Assignment of two Japanese xeroderma pigmentosum patients to
RT   complementation group D and their characteristics.";
RL   Jpn. J. Cancer Res. 76:162-166(1985).
//
RX   PubMed=4031543; DOI=10.1111/1523-1747.ep12276776;
RA   Ichihashi M., Fujiwara Y., Uehara Y., Matsumoto A.;
RT   "A mild form of xeroderma pigmentosum assigned to complementation
RT   group G and its repair heterogeneity.";
RL   J. Invest. Dermatol. 85:284-287(1985).
//
RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
//
RX   PubMed=6307543; DOI=10.1093/carcin/4.8.1075;
RA   Teo I.A., Lehmann A.R., Muller R., Rajewsky M.F.;
RT   "Similar rate of O6-ethylguanine elimination from DNA in normal human
RT   fibroblast and xeroderma pigmentosum cell strains not transformed by
RT   SV40.";
RL   Carcinogenesis 4:1075-1077(1983).
//
RX   PubMed=7067035; DOI=10.1093/carcin/3.1.33;
RA   Teo I.A., Arlett C.F.;
RT   "The response of a variety of human fibroblast cell strains to the
RT   lethal effects of alkylating agents.";
RL   Carcinogenesis 3:33-37(1982).
//
RX   PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x;
RA   Day R.S. III, Ziolkowski C.H.J., DiMattina M.;
RT   "Decreased host cell reactivation of UV-irradiated adenovirus 5 by
RT   fibroblasts from Cockayne's syndrome patients.";
RL   Photochem. Photobiol. 34:603-607(1981).
//
RX   PubMed=8317483;
RA   Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.;
RT   "Xeroderma pigmentosum complementation group G associated with
RT   Cockayne syndrome.";
RL   Am. J. Hum. Genet. 53:185-192(1993).
//
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).
//
RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
//
RX   PubMed=11219864; DOI=10.1093/carcin/1.9.745;
RA   Arlett C.F., Harcourt S.A., Lehmann A.R., Stevens S.,
RA   Ferguson-Smith M.A., Morley W.N.;
RT   "Studies on a new case of xeroderma pigmentosum (XP3BR) from
RT   complementation group G with cellular sensitivity to ionizing
RT   radiation.";
RL   Carcinogenesis 1:745-751(1980).
//
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).
//
RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//
RX   PubMed=26184184; DOI=10.3390/ijms160715985;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//