ID   XPH294BE
AC   CVCL_X830
SY   Xeroderma Pigmentosum Heterozygote 294 BEthesda; AG10034
DR   CLO; CLO_0021886
DR   Coriell; AG10034
DR   Wikidata; Q54743200
RX   CelloPub=CLPUB00597;
RX   PubMed=16081512;
CC   Population: Native North American.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.622-2A>C (IVS5.1-2A>C); ClinVar=VCV000190209; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG10034).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_X831 ! XPH294BE LCL
SX   Female
AG   45Y4M
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 15
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
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).
//