ID   XP82TO
AC   CVCL_UH36
SY   Xeroderma Pigmentosum 82 TOkyo
DR   Wikidata; Q98136147
RX   PubMed=8798680;
RX   PubMed=9584159;
RX   PubMed=10771487;
RX   PubMed=10777490;
RX   PubMed=12812979;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Lys244Glu (c.730A>G); ClinVar=VCV000008787; Zygosity=Homozygous (PubMed=8798680; PubMed=10777490).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114771; Xeroderma pigmentosum, complementation group E
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   41Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
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RX   PubMed=8798680; DOI=10.1074/jbc.271.40.24317;
RA   Nichols A.F., Ong P., Linn S.M.;
RT   "Mutations specific to the xeroderma pigmentosum group E Ddb-
RT   phenotype.";
RL   J. Biol. Chem. 271:24317-24320(1996).
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RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
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RX   PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x;
RA   Itoh T., Linn S.M., Ono T., Yamaizumi M.;
RT   "Reinvestigation of the classification of five cell strains of
RT   xeroderma pigmentosum group E with reclassification of three of
RT   them.";
RL   J. Invest. Dermatol. 114:1022-1029(2000).
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RX   PubMed=10777490; DOI=10.1074/jbc.M000960200;
RA   Nichols A.F., Itoh T., Graham J.A., Liu W., Yamaizumi M., Linn S.M.;
RT   "Human damage-specific DNA-binding protein p48. Characterization of
RT   XPE mutations and regulation following UV irradiation.";
RL   J. Biol. Chem. 275:21422-21428(2000).
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RX   PubMed=12812979; DOI=10.1093/hmg/ddg174;
RA   Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M.,
RA   Bisi D.C., Levine A.S., Stefanini M.;
RT   "True XP group E patients have a defective UV-damaged DNA binding
RT   protein complex and mutations in DDB2 which reveal the functional
RT   domains of its p48 product.";
RL   Hum. Mol. Genet. 12:1507-1522(2003).
//