ID   XP25PV
AC   CVCL_ZM13
SY   Xeroderma Pigmentosum 25 PaVia
DR   Wikidata; Q98135590
RX   PubMed=9584159;
RX   PubMed=12812979;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Asp307Tyr (c.919G>T); ClinVar=VCV000008790; Zygosity=Homozygous (PubMed=12812979).
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   NCIt; C3452; Xeroderma pigmentosum
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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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=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).
//