GM03652
Fibroblast from Skin, Arm
Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
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Biopsy Source
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Arm
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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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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Relation to Proband
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proband
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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 |
3.95 |
| Passage Frozen |
8 |
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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 and by Chromosome Analysis |
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| Remarks |
Skin biopsy (left forearm) |
| Hirayama H, Tachida Y, Fujinawa R, Matsuda Y, Murase T, Nishiuchi Y, Suzuki T, Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity The Journal of biological chemistry300:107121 2023 |
| PubMed ID: 38417795 |
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| Cui H, Sepehrimanesh M, Coutee CA, Akter M, Hosain MA, Ding B, Protocol to image and quantify nucleocytoplasmic transport in cultured cells using fluorescent STAR protocols3:101813 2022 |
| PubMed ID: 36386872 |
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| Furtado D, Cortez-Jugo C, Hung YH, Bush AI, Caruso F, mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts Molecular pharmaceutics19:3987-3999 2022 |
| PubMed ID: 36125338 |
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| Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A, iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity Nature communications15:827 2022 |
| PubMed ID: 38280846 |
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| Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M, Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich's ataxia Molecular & cellular proteomics : MCP15:100094 2021 |
| PubMed ID: 33991687 |
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| Sepehrimanesh M, Akter M, Ding B, Direct conversion of adult fibroblasts into motor neurons STAR protocols2:100917 2021 |
| PubMed ID: 34746870 |
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| Wang D, Ho ES, Cotticelli MG, Xu P, Napierala JS, Hauser LA, Napierala M, Himes BE, Wilson RB, Lynch DR, Mesaros C, Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia Journal of lipid research63:100255 2021 |
| PubMed ID: 35850241 |
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| Ilnytska O, Lai K, Gorshkov K, Schultz ML, Tran BN, Jeziorek M, Kunkel TJ, Azaria RD, McLoughlin HS, Waghalter M, Xu Y, Schlame M, Altan-Bonnet N, Zheng W, Lieberman AP, Dobrowolski R, Storch J, Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage The Journal of biological chemistry63:100813 2020 |
| PubMed ID: 34023384 |
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| Bryant EM, Millichap JJ, Spinelli E, Calhoun JD, Miller C, Giannelli J, Wolak J, Sanders V, Carvill GL, Charrow J, Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation American journal of medical genetics Part A63:100813 2019 |
| PubMed ID: 32267060 |
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| McCauliff LA, Langan A, Li R, Ilnytska O, Bose D, Waghalter M, Lai K, Kahn PC, Storch J, Intracellular cholesterol trafficking is dependent upon NPC2 interaction with Lysobisphosphatidic Acid eLife8:100813 2019 |
| PubMed ID: 31580258 |
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| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:100813 2018 |
| PubMed ID: 30567591 |
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| Jones Iv AR, Coleman EL, Husni NR, Deeney JT, Raval F, Steenkamp D, Dooms H, Nikolajczyk BS, Corkey BE, Type 1 diabetes alters lipid handling and metabolism in human fibroblasts and peripheral blood mononuclear cells PloS one12:e0188474 2017 |
| PubMed ID: 29206239 |
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| Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M, Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers Disease models & mechanisms10:1353-1369 2017 |
| PubMed ID: 29125828 |
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| Cronshaw JM, Matunis MJ, The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci U S A100(10):5823-7 2003 |
| PubMed ID: 12730363 |
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| Greco M, Villani G, Mazzucchelli F, Bresolin N, Papa S, Attardi G, Marked aging-related decline in efficiency of oxidative phosphorylation in human skin fibroblasts The FASEB journal : official publication of the Federation of American Societies for Experimental Biology17:1706-8 2003 |
| PubMed ID: 12958183 |
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| Zhang J, Asin-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, Passarino G, De Benedictis G, Franceschi C, Attardi G, Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A100(3):1116-21 2003 |
| PubMed ID: 12538859 |
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| Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA, The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A. Proc Natl Acad Sci U S A96:3149-53 1999 |
| PubMed ID: 10077652 |
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| Ascoli GA, Luu KX, Olds JL, Nelson TJ, Gusev PA, Bertucci C, Bramanti E, Raffaelli A, Salvadori P, Alkon DL, Secondary structure and Ca2+-induced conformational change of calexcitin, a learning-associated protein. J Biol Chem272:24771-9 1997 |
| PubMed ID: 9312073 |
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| Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A, Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem271:13155-61 1996 |
| PubMed ID: 8662757 |
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| Nelson TJ, Cavallaro S, Yi CL, McPhie D, Schreurs BG, Gusev PA, Favit A, Zohar O, Kim J, Beushausen S, Ascoli G, Olds J, Neve R, Alkon DL, Calexcitin: a signaling protein that binds calcium and GTP, inhibits potassium channels, and enhances membrane excitability. Proc Natl Acad Sci U S A93:13808-13 1996 |
| PubMed ID: 8943017 |
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| Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996 |
| PubMed ID: 8630978 |
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| Conover CA, Durham SK, Zapf J, Masiarz FR, Kiefer MC, Cleavage analysis of insulin-like growth factor (IGF)-dependent IGF-binding protein-4 proteolysis and expression of protease-resistant IGF-binding protein-4 mutants. J Biol Chem270:4395-400 1995 |
| PubMed ID: 7533161 |
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| Conover CA, De Leon DD, Acid-activated insulin-like growth factor-binding protein-3 proteolysis in normal and transformed cells. Role of cathepsin D. J Biol Chem269:7076-80 1994 |
| PubMed ID: 7510281 |
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| Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
| PubMed ID: 7847674 |
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| Etcheberrigaray R, Ito E, Kim CS, Alkon DL, Soluble beta-amyloid induction of Alzheimer's phenotype for human fibroblast K+ channels. Science264:276-9 1994 |
| PubMed ID: 8146663 |
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| Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
| PubMed ID: 8290560 |
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| Conover CA, Kiefer MC, Zapf J, Posttranslational regulation of insulin-like growth factor binding protein-4 in normal and transformed human fibroblasts. Insulin-like growth factor dependence and biological studies. J Clin Invest91:1129-37 1993 |
| PubMed ID: 7680662 |
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| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 8367484 |
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| Housley TJ, Baumann AP, Braun ID, Davis G, Seperack PK, Wilhelm SM, Recombinant Chinese hamster ovary cell matrix metalloprotease-3 (MMP-3, stromelysin-1). Role of calcium in promatrix metalloprotease-3 (pro-MMP-3, prostromelysin-1) activation and thermostability of the low mass catalytic domain of MMP-3. J Biol Chem268:4481-4487 1993 |
| PubMed ID: 8440730 |
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| McCoy KR, Mullins RD, Newcomb TG, Ng GM, Pavlinkova G, Polinsky RJ, Nee LE, Sisken JE, Serum- and bradykinin-induced calcium transients in familial Alzheimer's fibroblasts. Neurobiol Aging14:447-55 1993 |
| PubMed ID: 8247227 |
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| Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992 |
| PubMed ID: 1475361 |
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| Parshad R, Sanford KK, Kraemer KH, Jones GM, Tarone RE, Carrier detection in xeroderma pigmentosum. J Clin Invest85:135-8 1990 |
| PubMed ID: 2295692 |
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| Burns MA, Tomkins DJ, Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality. Mutat Res216:243-9 1989 |
| PubMed ID: 2507910 |
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| Nagasawa H, Burke MJ, Little FF, McCone EF, Chan GL, Little JB, Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome. Teratog Carcinog Mutagen8:25-33 1988 |
| PubMed ID: 2897722 |
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| Nagasawa H, Little JB, Radiosensitivities of ten apparently normal human diploid fibroblast strains to cell killing, G2-phase chromosomal aberrations, and cell cycle delay. Cancer Res48:4535-8 1988 |
| PubMed ID: 3396006 |
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| Conover CA, Rosenfeld RG, Hintz RL, Insulin-like growth factor II binding and action in human fetal fibroblasts. J Cell Physiol133:560-6 1987 |
| PubMed ID: 2961773 |
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| Conover CA, Rosenfeld RG, Hintz RL, Somatomedin C/insulin-like growth factor I binding and action in human fibroblasts aged in culture: impaired synergism with dexamethasone. J Gerontol42:308-314 1987 |
| PubMed ID: 3571867 |
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| Gaskin F, Kingsley BS, Fu SM, Autoantibodies to neurofibrillary tangles and brain tissue in Alzheimer's disease. Establishment of Epstein-Barr virus-transformed antibody-producing cell lines [published erratum appears in J Exp Med 1987 Mar 1;165(3):937] J Exp Med165:245-50 1987 |
| PubMed ID: 3025332 |
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| Rosenfeld RG, Conover CA, Hodges D, Lee PD, Misra P, Hintz RL, Li CH, Heterogeneity of insulin-like growth factor-I affinity for the insulin- like growth factor-II receptor: comparison of natural, synthetic and recombinant DNA-derived insulin-like growth factor-I. Biochem Biophys Res Commun143:199-205 1987 |
| PubMed ID: 2950860 |
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| Conover CA, Misra P, Hintz RL, Rosenfeld RG, Effect of an anti-insulin-like growth factor I receptor antibody on insulin-like growth factor II stimulation of DNA synthesis in human fibroblasts. Biochem Biophys Res Commun139:501-8 1986 |
| PubMed ID: 2945555 |
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| Conover CA, Rosenfeld RG, Hintz RL, Hormonal control of the replication of human fetal fibroblasts: role of somatomedin C/insulin-like growth factor I. J Cell Physiol128:47-54 1986 |
| PubMed ID: 3013906 |
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| Nove J, Little JB, Mayer PJ, Troilo P, Nichols WW, Hypersensitivity of cells from a new chromosomal-breakage syndrome to DNA-damaging agents. Mutat Res163:255-62 1986 |
| PubMed ID: 3785261 |
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| Zamansky GB, Varying sensitivity of human skin fibroblasts to polychromatic ultraviolet light. Mutat Res160:55-60 1986 |
| PubMed ID: 3951456 |
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| Conover CA, Dollar LA, Rosenfeld RG, Hintz RL, Somatomedin C-binding and action in fibroblasts from aged and progeric subjects. J Clin Endocrinol Metab60:685-91 1985 |
| PubMed ID: 2579088 |
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| Conover CA, Hintz RL, Rosenfeld RG, Comparative effects of somatomedin C and insulin on the metabolism and growth of cultured human fibroblasts. J Cell Physiol122:133-41 1985 |
| PubMed ID: 3880762 |
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| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
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| Nagasawa H, Latt SA, Lalande ME, Little JB, Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat Res148:71-82 1985 |
| PubMed ID: 3969079 |
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| Peterson C, Gibson GE, Blass JP, Altered calcium uptake in cultured skin fibroblasts from patients with Alzheimer's disease [letter] N Engl J Med312:1063-5 1985 |
| PubMed ID: 3982463 |
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| Zamansky GB, Minka DF, Deal CL, Hendricks K, The in vitro photosensitivity of systemic lupus erythematosus skin fibroblasts. J Immunol134:1571-6 1985 |
| PubMed ID: 3968426 |
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| Boorstein RJ, Pardee AB, Beta-lapachone greatly enhances MMS lethality to human fibroblasts. Biochem Biophys Res Commun118:828-34 1984 |
| PubMed ID: 6704108 |
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| Boorstein RJ, Pardee AB, 3-Aminobenzamide is lethal to MMS-damaged human fibroblasts primarily during S phase. J Cell Physiol120:345-53 1984 |
| PubMed ID: 6430922 |
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| Boorstein RJ, Pardee AB, Factors modifying 3-aminobenzamide cytotoxicity in normal and repair- deficient human fibroblasts. J Cell Physiol120:335-44 1984 |
| PubMed ID: 6746752 |
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| Dickson LA, Pihlajaniemi T, Deak S, Pope FM, Nicholls A, Prockop DJ, Myers JC, Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide- coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A81:4524-8 1984 |
| PubMed ID: 6087329 |
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| Kennedy AR, Radner BS, Nagasawa H, Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. Proc Natl Acad Sci U S A81:1827-30 1984 |
| PubMed ID: 6584916 |
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| Rosenfeld RG, Dollar LA, Conover CA, Density-associated loss of functional receptors for somatomedin- C/insulinlike growth factor I (SM-C/IGF-I) on cultured human fibroblast monolayers. J Cell Physiol121:419-24 1984 |
| PubMed ID: 6092394 |
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| Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983 |
| PubMed ID: 6300669 |
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| Boorstein RJ, Pardee AB, Coordinate inhibition of DNA synthesis and thymidylate synthase activity following DNA damage and repair. Biochem Biophys Res Commun117:30-6 1983 |
| PubMed ID: 6419736 |
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| Conover CA, Dollar LA, Hintz RL, Rosenfeld RG, Insulin-like growth factor I/somatomedin-C (IGF-I/SM-C) and glucocorticoids synergistically regulate mitosis in competent human fibroblasts. J Cell Physiol116:191-7 1983 |
| PubMed ID: 6306016 |
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| Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
| PubMed ID: 6350155 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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