ID   XP27PV
AC   CVCL_ZM14
SY   Xeroderma Pigmentosum 27 PaVia
DR   Wikidata; Q98135614
RX   PubMed=12812979;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Lys244Terfs (c.901_904delAAAG); 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=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).
//