ID   XPH133BE LCL
AC   CVCL_1F65
SY   Xeroderma Pigmentosum Heterozygote 133 BEthesda LCL; GM16690
DR   CLO; CLO_0018453
DR   Coriell; GM16690
DR   Wikidata; Q54848704
RX   PubMed=16081512;
CC   Population: Honduran.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM16690).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F66 ! XPH133BE
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
//
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).
//