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; 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: 19-12-24; Version: 15
//
RX   PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6;
RA   Kleijer, Wim J.
RA   de Weerd-Kastelein, Elizabeth A.
RA   Sluyter, Milou L.
RA   Keijzer, Wilma
RA   de Wit, Jan
RA   Bootsma, Dirk
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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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=6096694; DOI=10.1128/mcb.4.11.2341-2346.1984; PMCID=PMC369063;
RA   Abrahams, Peter J.
RA   Huitema, Bertha A.
RA   van der Eb, Alex Jan
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   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x;
RA   Khan, Sikandar G.
RA   Levy, Harvey Louis
RA   Legerski, Randy J.
RA   Quackenbush, Elizabeth
RA   Reardon, Joyce T.
RA   Emmert, Steffen
RA   Sancar, Aziz
RA   Li, Lei
RA   Schneider, Thomas D.
RA   Cleaver, James Edward
RA   Kraemer, Kenneth H.
RT   "Xeroderma pigmentosum group C splice mutation associated with autism
RT   and hypoglycinemia.";
RL   J. Invest. Dermatol. 111:791-796(1998).
//
RX   PubMed=7825573; PMCID=PMC1801309;
RA   Broughton, Bernard C.
RA   Thompson, Annette F.
RA   Harcourt, Susan A.
RA   Vermeulen, Wim
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Botta, Elena
RA   Stefanini, Miria
RA   King, Mary D.
RA   Weber, Christine A.
RA   Cole, Jane
RA   Arlett, Colin Francis
RA   Lehmann, Alan 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).
//