ID   XP1BE LCL
AC   CVCL_H685
SY   Xeroderma Pigmentosum 1 BEthesda LCL; GM02246; GM-2246; GM2246; GM2246A; GM02246B
DR   CLO; CLO_0032149
DR   BioSample; SAMN00807626
DR   Coriell; GM02246
DR   Wikidata; Q54837388
RX   CelloPub=CLPUB00447;
RX   PubMed=1702221;
RX   PubMed=2805228;
RX   PubMed=8327515;
RX   PubMed=16081512;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Lys431Argfs*6 (c.1292_1293delAA) (1132_1133delAA); ClinVar=VCV000000256; Zygosity=Homozygous or hemizygous (from autologous cell line XP1BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H686 ! XP1BE
SX   Female
AG   30Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 18
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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=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
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=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=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).
//