ID   XP67TMA
AC   CVCL_1F33
SY   Xeroderma Pigmentosum Turkey MAlatya 67; GM14867
DR   CLO; CLO_0031923
DR   Coriell; GM14867
DR   Wikidata; Q54847483
RX   PubMed=11511294;
RX   PubMed=16081512;
RX   PubMed=18809580;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Homozygous (PubMed=11511294; PubMed=18809580).
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   7Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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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).
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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).
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RX   PubMed=18809580; DOI=10.1128/mcb.00781-08; PMCID=PMC2593387;
RA   Bernardes de Jesus B.M., Bjoras M., Coin F., Egly J.-M.;
RT   "Dissection of the molecular defects caused by pathogenic mutations in
RT   the DNA repair factor XPC.";
RL   Mol. Cell. Biol. 28:7225-7235(2008).
//