ID   GM01389
AC   CVCL_F028
SY   GM-1389; GM01389A; GM01389D; XP408BE
DR   CLO; CLO_0030821
DR   BioSample; SAMN00803846
DR   Coriell; GM01389
DR   Wikidata; Q54836798
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=9584159;
RX   PubMed=10655550;
RX   PubMed=10777490;
RX   PubMed=12812979;
RX   PubMed=26184184;
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Asn349del (c.1045_1047delAAC); ClinVar=VCV002137064; Zygosity=Heterozygous (PubMed=10777490; PubMed=12812979; PubMed=26184184).
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (PubMed=10777490; PubMed=12812979; PubMed=26184184).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114771; Xeroderma pigmentosum, complementation group E
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7327 ! GM01646
SX   Female
AG   21Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 18
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
//
RX   PubMed=10655550; DOI=10.1093/hmg/9.3.403;
RA   Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.;
RT   "The establishment of telomerase-immortalized cell lines representing
RT   human chromosome instability syndromes.";
RL   Hum. Mol. Genet. 9:403-411(2000).
//
RX   PubMed=10777490; DOI=10.1074/jbc.M000960200;
RA   Nichols A.F., Itoh T., Graham J.A., Liu W., Yamaizumi M., Linn S.M.;
RT   "Human damage-specific DNA-binding protein p48. Characterization of
RT   XPE mutations and regulation following UV irradiation.";
RL   J. Biol. Chem. 275:21422-21428(2000).
//
RX   PubMed=12812979; DOI=10.1093/hmg/ddg174;
RA   Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M.,
RA   Bisi D.C., Levine A.S., Stefanini M.;
RT   "True XP group E patients have a defective UV-damaged DNA binding
RT   protein complex and mutations in DDB2 which reveal the functional
RT   domains of its p48 product.";
RL   Hum. Mol. Genet. 12:1507-1522(2003).
//
RX   PubMed=26184184; DOI=10.3390/ijms160715985;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//