ID   XP3RO LCL
AC   CVCL_F497
SY   Xeroderma Pigmentosum 3 ROtterdam LCL; GM02450; GM2450; GM 2450; GM2450D; GM02450E; GM02450F
DR   CLO; CLO_0033327
DR   BioSample; SAMN00807789
DR   Coriell; GM02450
DR   Wikidata; Q54837501
RX   CelloPub=CLPUB00447;
RX   PubMed=1376435;
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000008788; Zygosity=Homozygous (from autologous cell line XP3RO).
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_ZR58 ! XP3RO
SX   Female
AG   30Y
CA   Transformed cell line
DT   Created: 11-02-13; 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   PubMed=1376435; DOI=10.1016/0921-8777(92)90049-9;
RA   Keeney S.N., Wein H., Linn S.M.;
RT   "Biochemical heterogeneity in xeroderma pigmentosum complementation
RT   group E.";
RL   Mutat. Res. 273:49-56(1992).
//