ID   GM01646
AC   CVCL_7327
SY   GM-1646; GM1646; GM01646A
DR   CLO; CLO_0031526
DR   BioSample; SAMN00807019
DR   Coriell; GM01646
DR   Wikidata; Q54836978
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=9584159;
RX   PubMed=12812979;
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Asn349del (c.1045_1047del); ClinVar=VCV002137064; Zygosity=Heterozygous (from autologous cell line GM01389).
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (from autologous cell line GM01389).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114771; Xeroderma pigmentosum, complementation group E
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F028 ! GM01389
SX   Female
AG   21Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 20
//
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=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).
//