ID   XP17PV
AC   CVCL_RU40
SY   Xeroderma Pigmentosum 17 PaVia
DR   CLO; CLO_0009662
DR   CLDB; cl4755
DR   Wikidata; Q54994892
RX   PubMed=7585650;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; Zygosity=Heterozygous (PubMed=7585650).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=7585650).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=7585650;
RA   Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H.,
RA   Weber C.A.;
RT   "Defects in the DNA repair and transcription gene ERCC2 in the
RT   cancer-prone disorder xeroderma pigmentosum group D.";
RL   Cancer Res. 55:5656-5663(1995).
//