ID   XP21RO
AC   CVCL_M276
SY   Xeroderma Pigmentosum 21 ROtterdam; GM00709; GM-709; GM00709A
DR   CLO; CLO_0028891
DR   Coriell; GM00709
DR   Wikidata; Q54836401
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=4778857;
RX   PubMed=6096694;
RX   PubMed=7825573;
RX   PubMed=9804340;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000550020; Zygosity=Homozygous (from familial inference of XP4RO).
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   Male
AG   15Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 14
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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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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=6096694; DOI=10.1128/mcb.4.11.2341-2346.1984;
RA   Abrahams P.J., Huitema B.A., van der Eb A.J.;
RT   "Enhanced reactivation and enhanced mutagenesis of herpes simplex
RT   virus in normal human and xeroderma pigmentosum cells.";
RL   Mol. Cell. Biol. 4:2341-2346(1984).
//
RX   PubMed=7825573;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
//
RX   PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x;
RA   Khan S.G., Levy H.L., Legerski R.J., Quackenbush E., Reardon J.T.,
RA   Emmert S., Sancar A., Li L., Schneider T.D., Cleaver J.E.,
RA   Kraemer K.H.;
RT   "Xeroderma pigmentosum group C splice mutation associated with autism
RT   and hypoglycinemia.";
RL   J. Invest. Dermatol. 111:791-796(1998).
//