ID   XP100TMA
AC   CVCL_1F45
SY   Xeroderma Pigmentosum Turkey MAlatya 100; GM15709
DR   CLO; CLO_0027669
DR   Coriell; GM15709
DR   Wikidata; Q54848147
RX   PubMed=14662655;
RX   PubMed=16081512;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.413-9T>A (IVS3-9T>A); ClinVar=VCV000000260; Zygosity=Homozygous (PubMed=14662655; 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)
OI   CVCL_1F46 ! XP100TMA LCL
SX   Male
AG   14Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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RX   PubMed=14662655; DOI=10.1093/hmg/ddh026;
RA   Khan, Sikandar G.
RA   Metin, Ahmet
RA   Gozukara, Engin Mevlut
RA   Inui, Hiroki
RA   Shahlavi, Tala
RA   Muniz-Medina, Vanessa
RA   Baker, Carl C.
RA   Ueda, Takahiro
RA   Aiken, Juliet R.
RA   Schneider, Thomas D.
RA   Kraemer, Kenneth H.
RT   "Two essential splice lariat branchpoint sequences in one intron in a
RT   xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC
RT   mRNA levels that correlate with cancer risk.";
RL   Hum. Mol. Genet. 13:343-352(2004).
//
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).
//