• Mutation; HGNC; 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
Hiraku Takebe, Yoshiharu Miki, Takehito Kozuka, Jun-ichi Furuyama, Kiyoji Tanaka, Masao S. Sasaki, Yoshisada Fujiwara, Hiroshi Akiba;
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
Kanji Ishizaki, Takashi Yagi, Hiraku Takebe;
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
Hae-Ryong Chang, Kanji Ishizaki, Masao S. Sasaki, Junya Toguchida, Mitsuo Kato, Yusuke Nakamura, Susumu Kawamura, Takahiko Moriguchi, Mituo Ikenaga;
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
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Masashi Narita, Takashi Mimaki, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)

PubMed=7830260; DOI=10.1269/jrr.35.168
Kayo Fujikawa, Hitoshi Ayaki, Kanji Ishizaki, Hiroshi Takatera, Shinobu Matsuo, Hajime Iizuka, Hiroko Koizumi, Mituo Ikenaga;
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
J. Christopher States, E.R. McDuffie, Scott P. Myrand, Mindy L. McDowell, James Edward Cleaver;
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
Kohji Okamura, Hironari Sakaguchi, Rie Sakamoto-Abutani, Mahito Nakanishi, Ken Nishimura, Mayu Yamazaki-Inoue, Manami Ohtaka, Vaiyapuri Subbarayan Periasamy, Ali Abdullah Alshatwi, Akon Higuchi, Kazunori Hanaoka ...Show all 16 authors... , Kazuhiko Nakabayashi, Shuji Takada, Kenichiro Hata, Masashi Toyoda, Akihiro Umezawa; Show fewer authors
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)