ID   XP3RO
AC   CVCL_ZR58
SY   Xeroderma Pigmentosum 3 ROtterdam
DR   Wikidata; Q98135783
RX   PubMed=4778857;
RX   PubMed=4842087;
RX   PubMed=8798680;
RX   PubMed=10777490;
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000008788; Zygosity=Homozygous (PubMed=8798680; PubMed=10777490).
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_F497 ! XP3RO LCL
SX   Female
AG   29Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
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RX   PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6;
RA   Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W.,
RA   de Wit J., Bootsma D.;
RT   "UV-induced DNA repair synthesis in cells of patients with different
RT   forms of xeroderma pigmentosum and of heterozygotes.";
RL   Mutat. Res. 20:417-428(1973).
//
RX   PubMed=4842087; DOI=10.1016/0027-5107(74)90013-x;
RA   de Weerd-Kastelein E.A., Keijzer W., Bootsma D.;
RT   "A third complementation group in xeroderma pigmentosum.";
RL   Mutat. Res. 22:87-91(1974).
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RX   PubMed=8798680; DOI=10.1074/jbc.271.40.24317;
RA   Nichols A.F., Ong P., Linn S.M.;
RT   "Mutations specific to the xeroderma pigmentosum group E Ddb-
RT   phenotype.";
RL   J. Biol. Chem. 271:24317-24320(1996).
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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).
//