ID   XP4RO
AC   CVCL_U695
SY   XP-4; Xeroderma Pigmentosum 4 ROtterdam
DR   ATCC; CRL-1260
DR   Wikidata; Q54994852
RX   PubMed=273925;
RX   PubMed=837385;
RX   PubMed=1034206;
RX   PubMed=1383811;
RX   PubMed=4436596;
RX   PubMed=4778857;
RX   PubMed=7471106;
RX   PubMed=10766188;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000550020; Zygosity=Homozygous (PubMed=10766188).
CC   Discontinued: ATCC; CRL-1260; 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)
SX   Female
AG   16Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
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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=837385;
RA   Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A.,
RA   de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.;
RT   "Repair of ultraviolet light damage in a variety of human fibroblast
RT   cell strains.";
RL   Cancer Res. 37:904-910(1977).
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RX   PubMed=1034206; DOI=10.1016/0027-5107(76)90044-0;
RA   de Weerd-Kastelein E.A., Keijzer W., Sabour M., Parrington J.M.,
RA   Bootsma D.;
RT   "A xeroderma pigmentosum patient having a high residual activity of
RT   unscheduled DNA synthesis after UV is assigned to complementation
RT   group A.";
RL   Mutat. Res. 37:307-312(1976).
//
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=4436596; DOI=10.1111/1523-1747.ep12676556;
RA   Der Kaloustian V.M., de Weerd-Kastelein E.A., Kleijer W.J., Keijzer W.,
RA   Bootsma D.;
RT   "The genetic defect in the de Sanctis-Cacchione syndrome.";
RL   J. Invest. Dermatol. 63:392-396(1974).
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RX   PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6;
RA   Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W.,
RA   de Wit J., Bootsma D.;
RT   "UV-induced DNA repair synthesis in cells of patients with different
RT   forms of xeroderma pigmentosum and of heterozygotes.";
RL   Mutat. Res. 20:417-428(1973).
//
RX   PubMed=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
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RX   PubMed=10766188;
RA   Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A.,
RA   Lehmann A.R., Stefanini M.;
RT   "Mutations in the XPC gene in families with xeroderma pigmentosum and
RT   consequences at the cell, protein, and transcript levels.";
RL   Cancer Res. 60:1974-1982(2000).
//