ID   46BR
AC   CVCL_L943
AS   CVCL_7644
SY   46 BRighton; GM16096
DR   BTO; BTO_0004313
DR   CLO; CLO_0018865
DR   Coriell; GM16096
DR   Wikidata; Q54603228
RX   PubMed=2973075;
RX   PubMed=3180052;
RX   PubMed=3856882;
RX   PubMed=6408472;
RX   PubMed=6600729;
RX   PubMed=7067035;
RX   PubMed=19896956;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Glu566Lys (c.1696G>A); ClinVar=VCV000016775; Zygosity=Heterozygous (Coriell=GM16096).
CC   Sequence variation: Mutation; HGNC; HGNC:6598; LIG1; Simple; p.Arg771Trp (c.2311C>T); ClinVar=VCV000016776; Zygosity=Heterozygous (Coriell=GM16096).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122658; DNA ligase I deficiency
DI   NCIt; C26931; Hypogammaglobulinemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   18Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 17
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RX   PubMed=2973075; DOI=10.2307/3577479;
RA   Fertil B., Deschavanne P.J., Debieu D., Malaise E.-P.;
RT   "Correlation between PLD repair capacity and the survival curve of
RT   human fibroblasts in exponential growth phase: analysis in terms of
RT   several parameters.";
RL   Radiat. Res. 116:74-88(1988).
//
RX   PubMed=3180052;
RA   Lehmann A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
RT   "Relation between the human fibroblast strain 46BR and cell lines
RT   representative of Bloom's syndrome.";
RL   Cancer Res. 48:6343-6347(1988).
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RX   PubMed=3856882; DOI=10.1073/pnas.82.7.2044; PMCID=PMC397488;
RA   Henderson L.M., Arlett C.F., Harcourt S.A., Lehmann A.R.,
RA   Broughton B.C.;
RT   "Cells from an immunodeficient patient (46BR) with a defect in DNA
RT   ligation are hypomutable but hypersensitive to the induction of sister
RT   chromatid exchanges.";
RL   Proc. Natl. Acad. Sci. U.S.A. 82:2044-2048(1985).
//
RX   PubMed=6408472; DOI=10.1016/0027-5107(83)90177-X;
RA   Teo I.A., Arlett C.F., Harcourt S.A., Priestley A., Broughton B.C.;
RT   "Multiple hypersensitivity to mutagens in a cell strain (46BR) derived
RT   from a patient with immuno-deficiencies.";
RL   Mutat. Res. 107:371-386(1983).
//
RX   PubMed=6600729; DOI=10.1080/09553008314550171;
RA   Arlett C.F., Priestley A.;
RT   "Defective recovery from potentially lethal damage in some human
RT   fibroblast cell strains.";
RL   Int. J. Radiat. Biol. Relat. Stud. Phys. Chem. Med. 43:157-167(1983).
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RX   PubMed=7067035; DOI=10.1093/carcin/3.1.33;
RA   Teo I.A., Arlett C.F.;
RT   "The response of a variety of human fibroblast cell strains to the
RT   lethal effects of alkylating agents.";
RL   Carcinogenesis 3:33-37(1982).
//
RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//