ID   XP101TMA LCL
AC   CVCL_1F50
SY   Xeroderma Pigmentosum Turkey MAlatya 101 LCL; GM15716
DR   CLO; CLO_0027676
DR   Coriell; GM15716
DR   Wikidata; Q54848152
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 (Coriell=GM15716).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F49 ! XP101TMA
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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RX   PubMed=14662655; DOI=10.1093/hmg/ddh026;
RA   Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T.,
RA   Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D.,
RA   Kraemer K.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).
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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).
//