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, Sikandar G.
RA   Oh, Kyu-Seon
RA   Shahlavi, Tala
RA   Ueda, Takahiro
RA   Busch, David B.
RA   Inui, Hiroki
RA   Emmert, Steffen
RA   Imoto, Kyoko
RA   Muniz-Medina, Vanessa
RA   Baker, Carl C.
RA   DiGiovanna, John Joseph
RA   Schmidt, Deborah
RA   Khadavi, Arash
RA   Metin, Ahmet
RA   Gozukara, Engin Mevlut
RA   Slor, Hanoch
RA   Sarasin, Alain
RA   Kraemer, Kenneth H.
RT   "Reduced XPC DNA repair gene mRNA levels in clinically normal parents
RT   of xeroderma pigmentosum patients.";
RL   Carcinogenesis 27:84-94(2006).
//