ID   XPH89BE
AC   CVCL_1F57
SY   Xeroderma Pigmentosum Heterozygote 89 BEthesda; GM16379
DR   CLO; CLO_0019415
DR   BioSample; SAMN00804496
DR   Coriell; GM16379
DR   Wikidata; Q54848487
RX   PubMed=16081512;
CC   Population: Jewish; Sephardic.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (Coriell=GM16379).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F59 ! XPH89BE LCL
SX   Female
AG   39Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
//
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).
//