GM05849
Fibroblast from Skin, Unspecified
Description:
ATAXIA-TELANGIECTASIA; AT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Unspecified
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.94 |
| Passage Frozen |
95 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
AT5BIVA; SV40 transformed GM05823C; polyploid; radiosensitive; complementation group D |
| Britton S, Chanut P, Delteil C, Barboule N, Frit P, Calsou P, ATM antagonizes NHEJ proteins assembly and DNA-ends synapsis at single-ended DNA double strand breaks Nucleic acids research: 2020 |
| PubMed ID: 32890395 |
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| Nair BC, Krishnan SR, Sareddy GR, Mann M, Xu B, Natarajan M, Hasty P, Brann D, Tekmal RR, Vadlamudi RK, Proline, glutamic acid and leucine-rich protein-1 is essential for optimal p53-mediated DNA damage response Cell death and differentiation21:1409-18 2013 |
| PubMed ID: 24786831 |
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| McKerlie M, Lin S, Zhu XD, ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance Nucleic acids research40:3975-89 2012 |
| PubMed ID: 22266654 |
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| Chen X, Zhao R, Glick GG, Cortez D, Function of the ATR N-terminal domain revealed by an ATM/ATR chimera Experimental cell research313:1667-74 2007 |
| PubMed ID: 17376433 |
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| Kim HS, Hwang JT, Yun H, Chi SG, Lee SJ, Kang I, Yoon KS, Choe WJ, Kim SS, Ha J, Inhibition of AMP-activated protein kinase sensitizes cancer cells to cisplatin-induced apoptosis via hyper-induction of p53 The Journal of biological chemistry283:3731-42 2007 |
| PubMed ID: 18079115 |
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| Nakada S, Katsuki Y, Imoto I, Yokoyama T, Nagasawa M, Inazawa J, Mizutani S., Early G2/M checkpoint failure as a molecular mechanism underlying etoposide-induced chromosomal aberrations. J Clin Invest116(1):80-9 2006 |
| PubMed ID: 16357944 |
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| Lilley CE, Carson CT, Muotri AR, Gage FH, Weitzman MD, DNA repair proteins affect the lifecycle of herpes simplex virus 1 Proceedings of the National Academy of Sciences of the United States of America102:5844-9 2005 |
| PubMed ID: 15824307 |
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| Rao VA, Fan AM, Meng L, Doe CF, North PS, Hickson ID, Pommier Y, Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage Molecular and cellular biology25:8925-37 2005 |
| PubMed ID: 16199871 |
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| Balajee AS, Geard CR, Replication protein A and gamma-H2AX foci assembly is triggered by cellular response to DNA double-strand breaks Experimental cell research300:320-34 2004 |
| PubMed ID: 15474997 |
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| D'Anjou H, Chabot C, Chartrand P., Preferential accessibility to specific genomic loci for the repair of double-strand breaks in human cells. Nucleic Acids Res32(20):6136-43 2004 |
| PubMed ID: 15562005 |
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| Ismail SM, Buchholz TA, Story M, Brock WA, Stevens CW, Radiosensitivity is predicted by DNA end-binding complex density, but not by nuclear levels of band components. Radiother Oncol72(3):325-32 2004 |
| PubMed ID: 15450732 |
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| Little KC, Chartrand P, Genomic DNA is captured and amplified during double-strand break (DSB) repair in human cells. Oncogene23(23):4166-72 2004 |
| PubMed ID: 15048077 |
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| Takagi M, Tsuchida R, Oguchi K, Shigeta T, Nakada S, Shimizu K, Ohki M, Delia D, Chessa L, Taya Y, Nakanishi M, Tsunematsu Y, Bessho F, Isoyama K, Hayashi Y, Kudo K, Okamura J, Mizutani S, Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease. Blood103(1):283-90 2004 |
| PubMed ID: 12969974 |
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| Tosti E, Waldbaum L, Warshaw G, Gross EA, Ruggieri R, The stress kinase MRK contributes to regulation of DNA damage checkpoints through a p38gamma-independent pathway The Journal of biological chemistry279:47652-60 2004 |
| PubMed ID: 15342622 |
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| Wang J, Wiltshire T, Wang Y, Mikell C, Burks J, Cunningham C, Van Laar ES, Waters SJ, Reed E, Wang W, ATM-dependent CHK2 activation induced by anticancer agent, irofulven. J Biol ChemEpub ahead of print:47652-60 2004 |
| PubMed ID: 15269203 |
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| Carson CT, Schwartz RA, Stracker TH, Lilley CE, Lee DV, Weitzman MD, The Mre11 complex is required for ATM activation and the G2/M checkpoint. EMBO J22(24):6610-20 2003 |
| PubMed ID: 14657032 |
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| Famulski KS, Al-Hijailan RS, Dobler K, Pienkowska M, Al-Mohanna F, Paterson MC, Aberrant sensing of extracellular Ca2+ by cultured ataxia telangiectasia fibroblasts. Oncogene22(3):471-5 2003 |
| PubMed ID: 12545170 |
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| Frisan T, Cortes-Bratti X, Chaves-Olarte E, Stenerlöw B, Thelestam M, The Haemophilus ducreyi cytolethal distending toxin induces DNA double-strand breaks and promotes ATM-dependent activation of RhoA Cellular microbiology5:695-707 2003 |
| PubMed ID: 12969375 |
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| Groth A, Lukas J, Nigg EA, Sillje HH, Wernstedt C, Bartek J, Hansen K, Human Tousled like kinases are targeted by an ATM- and Chk1-dependent DNA damage
checkpoint. EMBO J22(7):1676-87 2003 |
| PubMed ID: 12660173 |
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| Ju R, Muller MT, Histone deacetylase inhibitors activate p21(WAF1) expression via ATM. Cancer Res63(11):2891-7 2003 |
| PubMed ID: 12782595 |
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| Mandola MV, Stoehlmacher J, Muller-Weeks S, Cesarone G, Yu MC, Lenz HJ, Ladner RD, A novel single nucleotide polymorphism within the 5' tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity. Cancer Res63(11):2898-904 2003 |
| PubMed ID: 12782596 |
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| Oguchi K, Takagi M, Tsuchida R, Taya Y, Ito E, Isoyama K, Ishii E, Zannini L,
Delia D, Mizutani S, Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. Blood101(9):3622-7 2003 |
| PubMed ID: 12511424 |
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| Pichierri P, Rosselli F, Franchitto A, Werner's syndrome protein is phosphorylated in an ATR/ATM-dependent manner following replication arrest and DNA damage induced during the S phase of the cell cycle Oncogene22:1491-500 2003 |
| PubMed ID: 12629512 |
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| Qi J, Shackelford R, Manuszak R, Cheng D, Smith M, Link CJ, Wang S, Functional expression of ATM gene carried by HSV amplicon vector in vitro and in vivo Gene therapy11:25-33 2003 |
| PubMed ID: 14681694 |
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| Shammas MA, Shmookler Reis RJ, Akiyama M, Koley H, Chauhan D, Hideshima T, Goyal RK, Hurley LH, Anderson KC, Munshi NC, Telomerase inhibition and cell growth arrest by G-quadruplex interactive agent in multiple myeloma. Mol Cancer Ther2(9):825-33 2003 |
| PubMed ID: 14555701 |
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| Tsvetkov L, Xu X, Li J, Stern DF, Polo-like kinase 1 and Chk2 interact and co-localize to centrosomes and the midbody. J Biol Chem278(10):8468-75 2003 |
| PubMed ID: 12493754 |
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| Xu X, Stern DF, NFBD1/KIAA0170 is a chromatin-associated protein involved in DNA damage signaling pathways. J Biol Chem278(10):8795-803 2003 |
| PubMed ID: 12499369 |
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| Dziegielewski J, Beerman TA, Cellular responses to the DNA strand-scission enediyne C-1027 can be independent of ATM, ATR, and DNA-PK kinases. J Biol Chem277(23):20549-54 2002 |
| PubMed ID: 11927575 |
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| Xu X, Tsvetkov LM, Stern DF, Chk2 activation and phosphorylation-dependent oligomerization. Mol Cell Biol22(12):4419-32 2002 |
| PubMed ID: 12024051 |
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| Yazdi PT, Wang Y, Zhao S, Patel N, Lee EY, Qin J, SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. Genes Dev16(5):571-82 2002 |
| PubMed ID: 11877377 |
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| Peretz S, Jensen R, Baserga R, Glazer PM, ATM-dependent expression of the insulin-like growth factor-I receptor in a pathway regulating radiation response. Proc Natl Acad Sci U S A98(4):1676-81 2001 |
| PubMed ID: 11172010 |
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| van Vugt MA, Smits VA, Klompmaker R, Medema RH, Inhibition of Polo-like kinase-1 by DNA damage occurs in an ATM- or ATR-dependent fashion. J Biol Chem276(45):41656-60 2001 |
| PubMed ID: 11514540 |
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| Melchionna R, Chen XB, Blasina A, McGowan CH, Threonine 68 is required for radiation-induced phosphorylation and activation of Cds1. Nat Cell Biol2(10):762-5 2000 |
| PubMed ID: 11025670 |
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| Ashburner BP, Shackelford RE, Baldwin AS Jr, Paules RS, Lack of involvement of ataxia telangiectasia mutated (ATM) in regulation of nuclear factor-kappaB (NF-kappaB) in human diploid fibroblasts. Cancer Res59(21):5456-60 1999 |
| PubMed ID: 10554017 |
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| Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999 |
| PubMed ID: 10480367 |
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| Shammas MA, Simmons CG, Corey DR, Shmookler Reis RJ, Telomerase inhibition by peptide nucleic acids reverses 'immortality' of transformed human cells. Oncogene18(46):6191-200 1999 |
| PubMed ID: 10597217 |
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| Rhodes N, D'Souza T, Foster CD, Ziv Y, Kirsch DG, Shiloh Y, Kastan MB, Reinhart PH, Gilmer TM, Defective potassium currents in ataxia telangiectasia fibroblasts. Genes Dev12:3686-92 1998 |
| PubMed ID: 9851975 |
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| Fritz E, Elsea SH, Patel PI, Meyn MS, Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype. Proc Natl Acad Sci U S A94:4538-42 1997 |
| PubMed ID: 9114025 |
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| Kysela BP, Lohrer H, Arrand JE, Defects in the kinetics of the repair of DNA double-strand breaks and inhibition of DNA synthesis in the ataxia telangiectasia AT5BI-VA cell line: comparison to a corrected hybrid, atxbc. Radiat Res144(3):276-81 1995 |
| PubMed ID: 7494870 |
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| Lucke-Huhle C, Alterations in oncogene expression and radiosensitivity in the most frequently used SV40-transformed human skin fibroblasts. Int J Radiat Biol65(6):665-73 1994 |
| PubMed ID: 7912716 |
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| Meyn MS, High spontaneous intrachromosomal recombination rates in ataxia- telangiectasia. Science260:1327-30 1993 |
| PubMed ID: 8493577 |
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| Meyn MS, Lu-Kuo JM, Herzing LB, Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts. Am J Hum Genet53:1206-16 1993 |
| PubMed ID: 7504406 |
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| Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991 |
| PubMed ID: 1671011 |
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| Taylor YC, Duncan PG, Zhang X, Wright WD, Differences in the DNA supercoiling response of irradiated cell lines from ataxia-telangiectasia versus unaffected individuals. Int J Radiat Biol59:359-71 1991 |
| PubMed ID: 1671687 |
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| Taylor YC, Zhang XF, Parsian AJ, Duncan PG, Image analysis-based measurement of DNA supercoiling changes in transformed and nontransformed human cell lines. Exp Cell Res197:222-8 1991 |
| PubMed ID: 1659987 |
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| Sullivan N, Lyne L, Sensitivity of fibroblasts derived from ataxia-telangiectasia patients to calicheamicin gamma 1I. Mutat Res245:171-5 1990 |
| PubMed ID: 1700294 |
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| Davies SM, Harris AL, Hickson ID, Overproduction of topoisomerase II in an ataxia telangiectasia fibroblast cell line: comparison with a topoisomerase II-overproducing hamster cell mutant. Nucleic Acids Res17(4):1337-51 1989 |
| PubMed ID: 2537956 |
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| Dean SW, Kincla L, Sykes HR, Lehmann AR, Wise IA, Instability of extrachromosomal cosmid DNA in SV40-transformed human (ataxia-telangiectasia) cells. Exp Cell Res183:473-83 1989 |
| PubMed ID: 2548887 |
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| Hilgers G, Abrahams PJ, Chen YQ, Schouten R, Cornelis JJ, Lowe JE, van der Eb AJ, Rommelaere J, Impaired recovery and mutagenic SOS-like responses in ataxia telangiectasia cells. Mutagenesis4:271-6 1989 |
| PubMed ID: 2550722 |
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| Ziv Y, Jaspers NG, Etkin S, Danieli T, Trakhtenbrot L, Amiel A, Ravia Y, Shiloh Y, Cellular and molecular characteristics of an immortalized ataxia- telangiectasia (group AB) cell line. Cancer Res49:2495-501 1989 |
| PubMed ID: 2539904 |
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| Hahn P, Kapp LN, Painter RB, Establishment and characterization of two human cell lines with amplified dihydrofolate reductase genes. Exp Cell Res168:89-94 1987 |
| PubMed ID: 3023120 |
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| Lucke-Huhle C, Hinrichs S, Speit G, DHFR gene amplification in cultured skin fibroblasts of ataxia telangiectasia patients after methotrexate selection. Carcinogenesis8:1801-6 1987 |
| PubMed ID: 2824082 |
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| Protic-Sabljic M, Kraemer KH, Host cell reactivation by human cells of DNA expression vectors damaged by ultraviolet radiation or by acid-heat treatment. Carcinogenesis7:1765-70 1986 |
| PubMed ID: 3463438 |
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| Kuhnlein U, Comparison of apurinic DNA-binding protein from an ataxia telangiectasia and a HeLa cell line. Evidence for an altered processing of apurinic/apyrimidinic endonuclease. J Biol Chem260:14918-24 1985 |
| PubMed ID: 2415510 |
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| Murnane JP, Fuller LF, Painter RB, Establishment and characterization of a permanent pSV ori--transformed ataxia-telangiectasia cell line. Exp Cell Res158:119-26 1985 |
| PubMed ID: 2987007 |
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| Protic-Sabljic M, Kraemer KH, One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A82:6622-6 1985 |
| PubMed ID: 2995975 |
| dbSNP |
dbSNP ID: 13590 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
| Passage Frozen |
95 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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