ID   XP13PV
AC   CVCL_RU36
SY   Xeroderma Pigmentosum 13 PaVia
DR   CLO; CLO_0009657
DR   CLDB; cl4751
DR   Wikidata; Q54994883
RX   PubMed=10766188;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Ala109Argfs*5 (c.321_322insAA); Zygosity=Heterozygous (PubMed=10766188).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Trp690Ser (c.2069G>C); Zygosity=Heterozygous (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   14Y
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).
//