ID   XP2OS
AC   CVCL_F510
SY   Xeroderma Pigmentosum 2 OSaka; GM04419; GM 4419
DR   Coriell; GM04419
DR   JCRB; JCRB3048
DR   JCRB; KURB1007
DR   Wikidata; Q54838478
RX   PubMed=832273;
RX   PubMed=967189;
RX   PubMed=1180926;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2039995;
RX   PubMed=6096450;
RX   PubMed=6876478;
RX   PubMed=7000335;
RX   PubMed=7264357;
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).
CC   Misspelling: XP20S; Note=Occasionally.
CC   Discontinued: Coriell; GM04419; probable.
CC   Discontinued: JCRB; KURB1007; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9
ST   D16S539: 9,12
ST   D5S818: 10,11
ST   D7S820: 8,12
ST   TH01: 6,9
ST   TPOX: 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)
OI   CVCL_F512 ! XP2OS LCL
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 23
//
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=967189; DOI=10.1016/0027-5107(76)90058-0;
RA   Fujiwara Y., Tatsumi M.;
RT   "Replicative bypass repair of ultraviolet damage to DNA of mammalian
RT   cells: caffeine sensitive and caffeine resistant mechanisms.";
RL   Mutat. Res. 37:91-110(1976).
//
RX   PubMed=1180926; DOI=10.1016/0006-291x(75)90551-3;
RA   Fujiwara Y., Tatsumi M.;
RT   "Repair of mitomycin C damage to DNA in mammalian cells and its
RT   impairment in Fanconi's anemia cells.";
RL   Biochem. Biophys. Res. Commun. 66:592-598(1975).
//
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;
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=2039995;
RA   Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.;
RT   "Analysis of point mutations in an ultraviolet-irradiated shuttle
RT   vector plasmid propagated in cells from Japanese xeroderma pigmentosum
RT   patients in complementation groups A and F.";
RL   Cancer Res. 51:3177-3182(1991).
//
RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
//
RX   PubMed=6876478; DOI=10.1007/BF01897042;
RA   Ikenaga M., Midorikawa M., Abe J., Mimaki T.;
RT   "The sensitivities to radiations and radiomimetic chemicals of cells
RT   from patients with ataxia telangiectasia.";
RL   Jinrui Idengaku Zasshi 28:1-10(1983).
//
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=7264357; DOI=10.1111/1523-1747.ep12482447;
RA   Fujiwara Y., Ichihashi M., Kano Y., Goto K., Shimizu K.;
RT   "A new human photosensitive subject with a defect in the recovery of
RT   DNA synthesis after ultraviolet-light irradiation.";
RL   J. Invest. Dermatol. 77:256-263(1981).
//