ID   XP5PV
AC   CVCL_RU47
SY   Xeroderma Pigmentosum 5 PaVia
DR   CLO; CLO_0009669
DR   CLDB; cl4762
DR   Wikidata; Q54994909
RX   PubMed=9584159;
RX   PubMed=10766188;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Ala109Argfs*5 (c.321_322insAA); Zygosity=Homozygous (PubMed=10766188).
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)
SX   Male
AG   21Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
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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).
//
RX   PubMed=10766188;
RA   Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A.,
RA   Lehmann A.R., Stefanini M.;
RT   "Mutations in the XPC gene in families with xeroderma pigmentosum and
RT   consequences at the cell, protein, and transcript levels.";
RL   Cancer Res. 60:1974-1982(2000).
//