ID   XP10PV
AC   CVCL_RU33
SY   Xeroderma Pigmentosum 10 PaVia
DR   CLO; CLO_0009654
DR   CLDB; cl4748
DR   Wikidata; Q54994866
RX   PubMed=10766188;
RX   PubMed=11511294;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; 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   Female
AG   15Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
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).
//
RX   PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x;
RA   Gozukara E.M., Khan S.G., Metin A., Emmert S., Busch D.B.,
RA   Shahlavi T., Coleman D.M., Miller M., Chinsomboon N., Stefanini M.,
RA   Kraemer K.H.;
RT   "A stop codon in xeroderma pigmentosum group C families in Turkey and
RT   Italy: molecular genetic evidence for a common ancestor.";
RL   J. Invest. Dermatol. 117:197-204(2001).
//