• Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221; PubMed=9671271; PubMed=27197874).
  

PubMed=832273
Takebe H., Miki Y., Kozuka T., Furuyama J.-i., Tanaka K., Sasaki M.S., Fujiwara Y., Akiba H.
DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
Cancer Res. 37:490-495(1977)

PubMed=7000335; DOI=10.1016/0304-3835(80)90072-5
Ishizaki K., Yagi T., Takebe H.
Cytotoxic effects of protease inhibitors on human cells. 1. High sensitivity of xeroderma pigmentosum cells to antipain.
Cancer Lett. 10:199-205(1980)

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=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)

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=7830260; DOI=10.1269/jrr.35.168
Fujikawa K., Ayaki H., Ishizaki K., Takatera H., Matsuo S., Iizuka H., Koizumi H., Ikenaga M.
Assignment of six patients with xeroderma pigmentosum in Hokkaido area to a variant form.
J. Radiat. Res. 35:168-178(1994)

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=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825
Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M., Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S., Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S., Hata K., Toyoda M., Umezawa A.
Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders.
Sci. Rep. 6:26342-26342(2016)