ID   XP26RO
AC   CVCL_JB72
AS   CVCL_B6J8
SY   Xeroderma Pigmentosum 26 ROtterdam; GM00518; GM0518; GM-518; GM 518
DR   Coriell; GM00518
DR   Wikidata; Q54836284
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=273925;
RX   PubMed=4436596;
RX   PubMed=4778857;
RX   PubMed=6087472;
CC   Population: Palestinian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg207Ter (c.619C>T); ClinVar=VCV000000996; Zygosity=Homozygous (from familial inference of XP25RO).
CC   Discontinued: Coriell; GM00518; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
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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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467;
RA   Andrews A.D., Barrett S.F., Robbins J.H.;
RT   "Xeroderma pigmentosum neurological abnormalities correlate with
RT   colony-forming ability after ultraviolet radiation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978).
//
RX   PubMed=4436596; DOI=10.1111/1523-1747.ep12676556;
RA   Der Kaloustian V.M., de Weerd-Kastelein E.A., Kleijer W.J., Keijzer W.,
RA   Bootsma D.;
RT   "The genetic defect in the de Sanctis-Cacchione syndrome.";
RL   J. Invest. Dermatol. 63:392-396(1974).
//
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=6087472; DOI=10.1007/BF01535631;
RA   Stambrook P.J., Dush M.K., Trill J.J., Tischfield J.A.;
RT   "Cloning of a functional human adenine phosphoribosyltransferase
RT   (APRT) gene: identification of a restriction fragment length
RT   polymorphism and preliminary analysis of DNAs from APRT-deficient
RT   families and cell mutants.";
RL   Somat. Cell Mol. Genet. 10:359-367(1984).
//