• Mutation; HGNC; 3437; ERCC5; Simple; p.Glu11Ter (c.31G>T); Zygosity=Heterozygous (from autologous cell line XP20BE).
  

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

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=9447232; DOI=10.1016/S0921-8777(97)00031-1
Okinaka R.T., Perez-Castro A.V., Sena A., Laubscher K., Strniste G.F., Park M.S., Hernandez R., MacInnes M.A., Kraemer K.H.
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree.
Mutat. Res. 385:107-114(1997)

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=12060391; DOI=10.1046/j.1523-1747.2002.01782.x
Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., Kraemer K.H.
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
J. Invest. Dermatol. 118:972-982(2002)

PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004
Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K., Wood R.D., Clarkson S.G.
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.
Mol. Cell. Biol. 24:10670-10680(2004)

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=19179371; DOI=10.1093/nar/gkp023
Limsirichaikul S., Niimi A., Fawcett H., Lehmann A.R., Yamashita S., Ogi T.
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).
Nucleic Acids Res. 37:e31.1-e31.10(2009)