• Mutation; HGNC; 3437; ERCC5; Simple; p.Arg372Thrfs*5 (c.1115_1118delGGAA); ClinVar=VCV000016574; Zygosity=Heterozygous (PubMed=11841555).
  
• Mutation; HGNC; 3437; ERCC5; Simple; p.Leu858Pro (c.2573T>C); ClinVar=VCV000016573; Zygosity=Heterozygous (PubMed=11841555).
  

PubMed=492197; DOI=10.1016/0027-5107(79)90231-8
Keijzer W., Jaspers N.G.J., Abrahams P.J., Taylor A.M.R., Arlett C.F., Zelle B., Takebe H., Kinmont P.D.C., Bootsma D.
A seventh complementation group in excision-deficient xeroderma pigmentosum.
Mutat. Res. 62:183-190(1979)

PubMed=11219864; DOI=10.1093/carcin/1.9.745
Arlett C.F., Harcourt S.A., Lehmann A.R., Stevens S., Ferguson-Smith M.A., Morley W.N.
Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.
Carcinogenesis 1:745-751(1980)

PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x
Day R.S. 3rd, Ziolkowski C.H.J., DiMattina M.
Decreased host cell reactivation of UV-irradiated adenovirus 5 by fibroblasts from Cockayne's syndrome patients.
Photochem. Photobiol. 34:603-607(1981)

PubMed=7067035; DOI=10.1093/carcin/3.1.33
Teo I.A., Arlett C.F.
The response of a variety of human fibroblast cell strains to the lethal effects of alkylating agents.
Carcinogenesis 3:33-37(1982)

PubMed=6307543; DOI=10.1093/carcin/4.8.1075
Teo I.A., Lehmann A.R., Muller R., Rajewsky M.F.
Similar rate of O6-ethylguanine elimination from DNA in normal human fibroblast and xeroderma pigmentosum cell strains not transformed by SV40.
Carcinogenesis 4:1075-1077(1983)

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Fujiwara Y., Satoh Y.
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

PubMed=4031543; DOI=10.1111/1523-1747.ep12276776
Ichihashi M., Fujiwara Y., Uehara Y., Matsumoto A.
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.
J. Invest. Dermatol. 85:284-287(1985)

PubMed=4066782; DOI=10.1242/jcs.76.1.115
Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.
Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively.
J. Cell Sci. 76:115-133(1985)

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Barbis D.P., Schultz R.A., Friedberg E.C.
Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum.
Mutat. Res. 165:175-184(1986)

PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X
Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H., Moses R.E.
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021
Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D.
Arch. Dermatol. 124:256-260(1988)

PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x
Squires S., Johnson R.T.
Kinetic analysis of UV-induced incision discriminates between fibroblasts from different xeroderma pigmentosum complementation groups, XPA heterozygotes and normal individuals.
Mutat. Res. 193:181-192(1988)

PubMed=2570806; DOI=10.1111/1523-1747.ep12284030
Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M., Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M.
Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient.
J. Invest. Dermatol. 93:460-465(1989)

PubMed=2175267; DOI=10.1016/0014-4827(90)90012-Y
Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.
Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts.
Exp. Cell Res. 191:256-262(1990)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8317483; PMCID=PMC1682247
Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x
Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
J. Invest. Dermatol. 118:344-351(2002)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)