ID   XP21BE
AC   CVCL_M296
SY   Xeroderma Pigmentosum 21 BEthesda; GM09943
DR   CLO; CLO_0029754
DR   Coriell; GM09943
DR   Wikidata; Q54844130
RX   CelloPub=CLPUB00447;
RX   PubMed=12665480;
RX   PubMed=18955168;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Homozygous (PubMed=18955168).
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_M295 ! XP21BE LCL
SX   Female
AG   7Y
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   PubMed=12665480; DOI=10.1096/fj.02-0851com;
RA   Tuo J.-S., Jaruga P., Rodriguez H., Bohr V.A., Dizdaroglu M.;
RT   "Primary fibroblasts of Cockayne syndrome patients are defective in
RT   cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting
RT   from oxidative stress.";
RL   FASEB J. 17:668-674(2003).
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RX   PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007;
RA   Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J.,
RA   Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C.,
RA   Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.;
RT   "XPC initiation codon mutation in xeroderma pigmentosum patients with
RT   and without neurological symptoms.";
RL   DNA Repair 8:114-125(2009).
//