ID   XP1BE
AC   CVCL_H686
SY   Xeroderma Pigmentosum 1 BEthesda; Fo Leg; GM10881; GM10881B
DR   CLO; CLO_0023418
DR   ATCC; CRL-1170
DR   BioSample; SAMN00800310
DR   Coriell; GM10881
DR   Wikidata; Q54844715
RX   CelloPub=CLPUB00447;
RX   PubMed=273925;
RX   PubMed=1383811;
RX   PubMed=3724780;
RX   PubMed=4811796;
RX   PubMed=26184184;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Lys431Argfs*6 (c.1292_1293delAA) (1132_1133delAA); ClinVar=VCV000000256; Zygosity=Homozygous or hemizygous (PubMed=26184184).
CC   Discontinued: ATCC; CRL-1170; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H685 ! XP1BE LCL
SX   Female
AG   27Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 16
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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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467;
RA   Andrews A.D., Barrett S.F., Robbins J.H.;
RT   "Xeroderma pigmentosum neurological abnormalities correlate with
RT   colony-forming ability after ultraviolet radiation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978).
//
RX   PubMed=1383811; DOI=10.1016/0921-8777(92)90008-Q;
RA   Kantor G.J., Shanower G.A.;
RT   "A re-examination of the intragenome distribution of repaired sites in
RT   proliferating xeroderma pigmentosum complementation group C
RT   fibroblasts.";
RL   Mutat. Res. 293:55-64(1992).
//
RX   PubMed=3724780; DOI=10.1016/0167-8817(86)90043-x;
RA   Kantor G.J., Player A.N.;
RT   "A further definition of characteristics of DNA-excision repair in
RT   xeroderma pigmentosum complementation group A strains.";
RL   Mutat. Res. 166:79-88(1986).
//
RX   PubMed=4811796; DOI=10.7326/0003-4819-80-2-221;
RA   Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.;
RT   "Xeroderma pigmentosum. An inherited disease with sun sensitivity,
RT   multiple cutaneous neoplasms, and abnormal DNA repair.";
RL   Ann. Intern. Med. 80:221-248(1974).
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RX   PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//