ID   XP17BE LCL
AC   CVCL_L778
SY   Xeroderma Pigmentosum 17 BEthesda LCL; GM02253; GM-2253; GM 2253; GM2253; GM02253D; GM02253E
DR   CLO; CLO_0032159
DR   BioSample; SAMN00807636
DR   Coriell; GM02253
DR   Wikidata; Q54837393
RX   CelloPub=CLPUB00447;
RX   PubMed=2805228;
RX   PubMed=6096450;
RX   PubMed=7519740;
RX   PubMed=9025096;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Asp681Asn (c.2041G>A); ClinVar=VCV000016787; Zygosity=Heterozygous (from autologous cell line XP17BE).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from autologous cell line XP17BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_3815 ! XP17BE
SX   Male
AG   14Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 24
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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=7519740; DOI=10.1016/0165-7992(94)90014-0;
RA   Jones C.J., Lloyd R.S., Wood R.D.;
RT   "Analysis of cells harboring a putative DNA repair gene reveals a lack
RT   of evidence for a second independent xeroderma pigmentosum group A
RT   correcting gene.";
RL   Mutat. Res. 324:159-164(1994).
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RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi T., Wood R.D., Takebe H.;
RT   "A low content of ERCC1 and a 120 kDa protein is a frequent feature of
RT   group F xeroderma pigmentosum fibroblast cells.";
RL   Mutagenesis 12:41-44(1997).
//