ID   XP2OS LCL
AC   CVCL_F512
SY   Xeroderma Pigmentosum 2 OSaka LCL; GM02345; GM 2345; GM2345; GM2345A; GM02345B; GM2345B; GM17051
DR   CLO; CLO_0014646
DR   CLO; CLO_0033111
DR   BioSample; SAMN00807727
DR   Coriell; GM02345
DR   Coriell; GM17051
DR   Wikidata; Q54837452
RX   CelloPub=CLPUB00447;
RX   PubMed=2805228;
RX   PubMed=6096450;
RX   PubMed=7519740;
RX   PubMed=8327515;
RX   PubMed=9025096;
RX   PubMed=9584159;
CC   Part of: Human variation panel.
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 (Coriell=GM17051).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F510 ! XP2OS
SX   Female
AG   8Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 23
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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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=2805228; DOI=10.1093/carcin/10.11.2067;
RA   Arita I., Tachibana A., Takebe H., Tatsumi K.;
RT   "Predominance of Mex+ cells in newly-established human lymphoblastoid
RT   cell lines.";
RL   Carcinogenesis 10:2067-2073(1989).
//
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=7519740; DOI=10.1016/0165-7992(94)90014-0;
RA   Jones C.J., Lloyd R.S., Wood R.D.;
RT   "Analysis of cells harboring a putative DNA repair gene reveals a lack
RT   of evidence for a second independent xeroderma pigmentosum group A
RT   correcting gene.";
RL   Mutat. Res. 324:159-164(1994).
//
RX   PubMed=8327515; DOI=10.1073/pnas.90.13.6335;
RA   Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R.;
RT   "DNA excision-repair defect of xeroderma pigmentosum prevents removal
RT   of a class of oxygen free radical-induced base lesions.";
RL   Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993).
//
RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi T., Wood R.D., Takebe H.;
RT   "A low content of ERCC1 and a 120 kDa protein is a frequent feature of
RT   group F xeroderma pigmentosum fibroblast cells.";
RL   Mutagenesis 12:41-44(1997).
//
RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
//