• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Cys108Phe (c.323G>T); ClinVar=VCV000000993; Zygosity=Heterozygous (PubMed=9671271; PubMed=26184184).
  
• Mutation; HGNC; HGNC:12814; XPA; Simple; p.Leu117Glufs*4 (c.349_353delCTTAT) (349del5); ClinVar=VCV000000994; Zygosity=Heterozygous (PubMed=9671271; PubMed=26184184).
  

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Dina P. Barbis, Roger A. Schultz, Errol Clive Friedberg;
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
Cada M. Wood, Terry L. Timme, Myra McEarl Hurt, Bill R. Brinkley, David Hamilton Ledbetter, Robb E. Moses;
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

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