• Mutation; HGNC; 12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=8595429; PubMed=9671271).
  
• Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (PubMed=9671271; Coriell=GM05509).
  

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Andrews A.D., Barrett S.F., Robbins J.H.
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=643622; DOI=10.1093/nar/5.3.951; PMCID=PMC342035
Kuhnlein U., Lee B., Penhoet E.E., Linn S.M.
Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA endonuclease species with a low apparent Km.
Nucleic Acids Res. 5:951-960(1978)

PubMed=656543; DOI=10.1016/S0006-3495(78)85487-3; PMCID=PMC1473442
Ehmann U.K., Cook K.H., Friedberg E.C.
The kinetics of thymine dimer excision in ultraviolet-irradiated human cells.
Biophys. J. 22:249-264(1978)

PubMed=450131; DOI=10.1038/279797a0
Day R.S. 3rd, Ziolkowski C.H.J.
Human brain tumour cell strains with deficient host-cell reactivation of N-methyl-N'-nitro-N-nitrosoguanidine-damaged adenovirus 5.
Nature 279:797-799(1979)

PubMed=7374661; DOI=10.1016/0027-5107(80)90164-5
Little J.B., Nove J., Weichselbaum R.R.
Abnormal sensitivity of diploid skin fibroblasts from a family with Gardner's syndrome to the lethal effects of X-irradiation, ultraviolet light and mitomycin-C.
Mutat. Res. 70:241-250(1980)

PubMed=7471105
Weichselbaum R.R., Nove J., Little J.B.
X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders.
Cancer Res. 40:920-925(1980)

PubMed=7273335; DOI=10.1093/carcin/2.6.567
Simon L., Hazard R.M., Maher V.M., McCormick J.J.
Enhanced cell killing and mutagenesis by ethylnitrosourea in xeroderma pigmentosum cells.
Carcinogenesis 2:567-570(1981)

PubMed=7161312; DOI=10.1007/BF00406246
Thielmann H.W., Popanda O., Edler L.
XP patients from Germany: correlation of colony-forming ability, unscheduled DNA synthesis and single-strand breaks after UV damage in xeroderma pigmentosum fibroblasts.
J. Cancer Res. Clin. Oncol. 104:263-286(1982)

PubMed=3724780; DOI=10.1016/0167-8817(86)90043-x
Kantor G.J., Player A.N.
A further definition of characteristics of DNA-excision repair in xeroderma pigmentosum complementation group A strains.
Mutat. Res. 166:79-88(1986)

PubMed=2657812; DOI=10.1111/j.1751-1097.1989.tb09205.x
Mori T., Wani A.A., D'Ambrosio S.M., Chang C.-C., Trosko J.E.
In situ pyrimidine dimer determination by laser cytometry.
Photochem. Photobiol. 49:523-526(1989)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S., Okada Y.
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=2065254; DOI=10.1093/brain/114.3.1335
Robbins J.H., Brumback R.A., Mendiones M., Barrett S.F., Carl J.R., Cho S., Denckla M.B., Ganges M.B., Gerber L.H., Guthrie R.A., Meer J., Moshell A.N., Polinsky R.J., Ravin P.D., Sonies B.C., Tarone R.E.
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.
Brain 114:1335-1361(1991)

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=1372102; DOI=10.1016/0921-8777(92)90080-M
Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y., Kondo S., Okada Y.
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)

PubMed=8595429; DOI=10.1093/hmg/4.10.1993
Satokata I., Uchiyama M., Tanaka K.
Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.
Hum. Mol. Genet. 4:1993-1994(1995)

PubMed=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422
Parshad R., Sanford K.K., Price F.M., Melnick L.K., Nee L.E., Schapiro M.B., Tarone R.E., Robbins J.H.
Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture.
Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996)

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=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
States J.C., McDuffie E.R., Myrand S.P., McDowell M.L., Cleaver J.E.
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Hum. Mutat. 12:103-113(1998)

PubMed=15744458; DOI=10.1007/s10038-004-0228-2
Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
J. Hum. Genet. 50:151-154(2005)