ID   XP16VI
AC   CVCL_ZR32
SY   Xeroderma Pigmentosum 16 VIllejuif
DR   Wikidata; Q98135360
RX   PubMed=9415314;
RX   PubMed=16081512;
CC   Population: Algerian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Homozygous (PubMed=16081512).
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   19Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=9415314; DOI=10.1038/sj.gt.3300495;
RA   Zeng L., Quilliet X., Chevallier-Lagente O., Eveno E., Sarasin A.,
RA   Mezzina M.;
RT   "Retrovirus-mediated gene transfer corrects DNA repair defect of
RT   xeroderma pigmentosum cells of complementation groups A, B and C.";
RL   Gene Ther. 4:1077-1084(1997).
//
RX   PubMed=16081512; DOI=10.1093/carcin/bgi204;
RA   Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H.,
RA   Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J.,
RA   Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A.,
RA   Kraemer K.H.;
RT   "Reduced XPC DNA repair gene mRNA levels in clinically normal parents
RT   of xeroderma pigmentosum patients.";
RL   Carcinogenesis 27:84-94(2006).
//