ID   XP12BE LCL
AC   CVCL_F117
SY   Xeroderma Pigmentosum 12 BEthesda LCL; GM02250; GM2250; GM 2250; GM02250A; GM2250A; GM02250D; GM02250E
DR   CLO; CLO_0032150
DR   BioSample; SAMN00807632
DR   Coriell; GM02250
DR   Wikidata; Q54837391
RX   CelloPub=CLPUB00447;
RX   PubMed=2805228;
RX   PubMed=6096450;
RX   PubMed=6809308;
RX   PubMed=8327515;
RX   PubMed=8483505;
RX   PubMed=8823375;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM02250).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM02250).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F119 ! XP12BE
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 22
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=2805228; DOI=10.1093/carcin/10.11.2067;
RA   Arita I., Tachibana A., Takebe H., Tatsumi K.;
RT   "Predominance of Mex+ cells in newly-established human lymphoblastoid
RT   cell lines.";
RL   Carcinogenesis 10:2067-2073(1989).
//
RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
//
RX   PubMed=6809308;
RA   Ishida R., Buchwald M.;
RT   "Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking
RT   and alkylating agents.";
RL   Cancer Res. 42:4000-4006(1982).
//
RX   PubMed=8327515; DOI=10.1073/pnas.90.13.6335;
RA   Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R.;
RT   "DNA excision-repair defect of xeroderma pigmentosum prevents removal
RT   of a class of oxygen free radical-induced base lesions.";
RL   Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993).
//
RX   PubMed=8483505; DOI=10.1038/363185a0;
RA   O'Donovan A., Wood R.D.;
RT   "Identical defects in DNA repair in xeroderma pigmentosum group G and
RT   rodent ERCC group 5.";
RL   Nature 363:185-188(1993).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
//