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
//
RX   PubMed=16081512; DOI=10.1093/carcin/bgi204;
RA   Khan, Sikandar G.
RA   Oh, Kyu-Seon
RA   Shahlavi, Tala
RA   Ueda, Takahiro
RA   Busch, David B.
RA   Inui, Hiroki
RA   Emmert, Steffen
RA   Imoto, Kyoko
RA   Muniz-Medina, Vanessa
RA   Baker, Carl C.
RA   DiGiovanna, John Joseph
RA   Schmidt, Deborah
RA   Khadavi, Arash
RA   Metin, Ahmet
RA   Gozukara, Engin Mevlut
RA   Slor, Hanoch
RA   Sarasin, Alain
RA   Kraemer, Kenneth H.
RT   "Reduced XPC DNA repair gene mRNA levels in clinically normal parents
RT   of xeroderma pigmentosum patients.";
RL   Carcinogenesis 27:84-94(2006).
//
RX   PubMed=18809580; DOI=10.1128/mcb.00781-08; PMCID=PMC2593387;
RA   Bernardes de Jesus, Bruno Miguel
RA   Bjoras, Magnar
RA   Coin, Frederic
RA   Egly, Jean-Marc
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).
//
RX   PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x;
RA   Gozukara, Engin Mevlut
RA   Khan, Sikandar G.
RA   Metin, Ahmet
RA   Emmert, Steffen
RA   Busch, David B.
RA   Shahlavi, Tala
RA   Coleman, Donna M.
RA   Miller, Mark
RA   Chinsomboon, Nonglux
RA   Stefanini, Miria
RA   Kraemer, Kenneth 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).
//