ID   XP72TMA
AC   CVCL_1F38
SY   Xeroderma Pigmentosum Turkey MAlatya 72; GM14877
DR   CLO; CLO_0032070
DR   Coriell; GM14877
DR   Wikidata; Q54847489
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 (PubMed=14662655).
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_1F37 ! XP72TMA LCL
SX   Female
AG   16Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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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).
//