ID   2BNneo
AC   CVCL_8088
DR   BTO; BTO_0004322
DR   Wikidata; Q54584320
RX   PubMed=12604777;
CC   Senescence: SV40-transformed but with a finite life span.
CC   Sequence variation: Mutation; HGNC; HGNC:25737; NHEJ1; Simple; p.Glu5Glyfs*43 (c.11dupT) (ins11T); ClinVar=VCV000000985; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C162695; Severe combined immunodeficiency due to NHEJ1 deficiency
DI   ORDO; Orphanet_169079; Cernunnos-XLF deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_8087 ! 2BN
SX   Female
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 20
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RX   PubMed=12604777; DOI=10.1073/pnas.0437964100; PMCID=PMC151363;
RA   Dai Y., Kysela B., Hanakahi L.A., Manolis K., Riballo E., Stumm M.,
RA   Harville T.O., West S.C., Oettinger M.A., Jeggo P.A.;
RT   "Nonhomologous end joining and V(D)J recombination require an
RT   additional factor.";
RL   Proc. Natl. Acad. Sci. U.S.A. 100:2462-2467(2003).
//