ID   XP72TMA LCL
AC   CVCL_1F37
SY   Xeroderma Pigmentosum Turkey MAlatya 72 LCL; GM14876; GM14876A
DR   CLO; CLO_0032071
DR   Coriell; GM14876
DR   Wikidata; Q54847488
RX   PubMed=14662655;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.413-24A>G (IVS3-24A>G); ClinVar=VCV000000261; Zygosity=Homozygous (Coriell=GM14876).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F38 ! XP72TMA
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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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).
//