ID   XP3OS
AC   CVCL_3245
AS   CVCL_F511
SY   Xeroderma Pigmentosum 3 OSaka; GM04314; GM04314B; GM4314
DR   CLO; CLO_0019557
DR   Coriell; GM04314
DR   GEO; GSM1338611
DR   JCRB; JCRB0303
DR   JCRB; KURB1002
DR   JCRB; KURB1003
DR   JCRB; KURB1004
DR   Wikidata; Q54994928
RX   CelloPub=CLPUB00447;
RX   PubMed=832273;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2570806;
RX   PubMed=7000335;
RX   PubMed=7830260;
RX   PubMed=9671271;
RX   PubMed=27197874;
CC   Population: Japanese.
CC   Sequence variation: 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).
CC   Omics: Deep exome analysis.
CC   Misspelling: XP30S; Note=Occasionally.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0303; PubMed=27197874
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9,11
ST   D16S539: 9,12
ST   D18S51: 13
ST   D21S11: 29,30
ST   D3S1358: 15,16
ST   D5S818: 10,11
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 22,23
ST   Penta D: 9
ST   Penta E: 14,17
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 14,16
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 02-05-24; Version: 21
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=832273;
RA   Takebe H., Miki Y., Kozuka T., Furuyama J.-i., Tanaka K., Sasaki M.S.,
RA   Fujiwara Y., Akiba H.;
RT   "DNA repair characteristics and skin cancers of xeroderma pigmentosum
RT   patients in Japan.";
RL   Cancer Res. 37:490-495(1977).
//
RX   PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M;
RA   Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y.,
RA   Kondo S., Okada Y.;
RT   "Three nonsense mutations responsible for group A xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 273:193-202(1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=2570806; DOI=10.1111/1523-1747.ep12284030;
RA   Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M.,
RA   Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M.;
RT   "Somatic mosaicism for DNA repair capacity in fibroblasts derived from
RT   a group A xeroderma pigmentosum patient.";
RL   J. Invest. Dermatol. 93:460-465(1989).
//
RX   PubMed=7000335; DOI=10.1016/0304-3835(80)90072-5;
RA   Ishizaki K., Yagi T., Takebe H.;
RT   "Cytotoxic effects of protease inhibitors on human cells. 1. High
RT   sensitivity of xeroderma pigmentosum cells to antipain.";
RL   Cancer Lett. 10:199-205(1980).
//
RX   PubMed=7830260; DOI=10.1269/jrr.35.168;
RA   Fujikawa K., Ayaki H., Ishizaki K., Takatera H., Matsuo S., Iizuka H.,
RA   Koizumi H., Ikenaga M.;
RT   "Assignment of six patients with xeroderma pigmentosum in Hokkaido
RT   area to a variant form.";
RL   J. Radiat. Res. 35:168-178(1994).
//
RX   PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States J.C., McDuffie E.R., Myrand S.P., McDowell M.L., Cleaver J.E.;
RT   "Distribution of mutations in the human xeroderma pigmentosum group A
RT   gene and their relationships to the functional regions of the DNA
RT   damage recognition protein.";
RL   Hum. Mutat. 12:103-113(1998).
//
RX   PubMed=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825;
RA   Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M.,
RA   Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S.,
RA   Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S.,
RA   Hata K., Toyoda M., Umezawa A.;
RT   "Distinctive features of single nucleotide alterations in induced
RT   pluripotent stem cells with different types of DNA repair deficiency
RT   disorders.";
RL   Sci. Rep. 6:26342-26342(2016).
//