GM00498
Fibroblast from Skin, Unspecified
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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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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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and 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 |
4.58 |
| Passage Frozen |
13 |
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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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| INSULIN-LIKE GROWTH FACTOR I AND II |
Yee et al (Cancer Res 48:6691-6696,1988) observed that this normal fibroblast culture produced detectable levels of insulin-like growth factor II mRNA. |
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| Remarks |
Skin biopsy; 46,XY |
| Sprecher U, Dsouza J, Marisat M, Barasch D, Mishra K, Kakhlon O, Manor J, Anikster Y, Weil M, In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction Molecular genetics and metabolism reports42:101172 2025 |
| PubMed ID: 39802097 |
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| Hamamoto A, Kita N, Gowda SGB, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease Cell structure and function42:101172 2024 |
| PubMed ID: 38072450 |
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| Kita N, Hamamoto A, B Gowda SG, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis Journal of lipid research42:100508 2024 |
| PubMed ID: 38280458 |
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| Nielsen BS, Madsen NH, Larsen J, Skandorff I, Gad M, Holmstrøm K, Architectural organization and molecular profiling of 3D cancer heterospheroids and their application in drug testing Frontiers in oncology14:1386097 2024 |
| PubMed ID: 39011470 |
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| De Serres-Bérard T, Jauvin D, Puymirat J, Chahine M, Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A) Stem cell research72:103234 2023 |
| PubMed ID: 37871474 |
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| Fatica T, Naas T, Liwak U, Slaa H, Souaid M, Frangione B, Kattini R, Gaudreau-Lapierre A, Trinkle-Mulcahy L, Chakraborty P, Holcik M, TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins Genes14:103234 2023 |
| PubMed ID: 37239403 |
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| Karyka E, Berrueta Ramirez N, Webster CP, Marchi PM, Graves EJ, Godena VK, Marrone L, Bhargava A, Ray S, Ning K, Crane H, Hautbergue GM, El-Khamisy SF, Azzouz M, SMN-deficient cells exhibit increased ribosomal DNA damage Life science alliance5:103234 2022 |
| PubMed ID: 35440492 |
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| Mondal A, Appu AP, Sadhukhan T, Bagh MB, Previde RM, Sadhukhan S, Stojilkovic S, Liu A, Mukherjee AB, Ppt1-deficiency dysregulates lysosomal Ca Journal of inherited metabolic disease45:635-656 2022 |
| PubMed ID: 35150145 |
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| Stahl-Meyer K, Bilgin M, Holland LKK, Stahl-Meyer J, Kirkegaard T, Petersen NHT, Maeda K, Jäättelä M, Galactosyl- and glucosylsphingosine induce lysosomal membrane permeabilization and cell death in cancer cells PloS one17:e0277058 2022 |
| PubMed ID: 36409725 |
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| Martinez Legaspi S, Segatori L, Aggregation Behavior of Nanoparticle-Peptide Systems Affects Autophagy Bioconjugate chemistry17:e0277058 2019 |
| PubMed ID: 31268689 |
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| Sarkar C, Sadhukhan T, Bagh MB, Appu AP, Chandra G, Mondal A, Saha A, Mukherjee AB, Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of INCL Journal of inherited metabolic disease17:e0277058 2019 |
| PubMed ID: 32279353 |
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| Adams J, Feuerborn M, Molina JA, Wilden AR, Adhikari B, Budden T, Lee SY, Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease Scientific reports9:151 2018 |
| PubMed ID: 30655561 |
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| Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB, Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome Journal of inherited metabolic disease42:944-954 2018 |
| PubMed ID: 31025705 |
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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 Biology19:944-954 2018 |
| PubMed ID: 30567591 |
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| Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T, The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase EBioMedicine38:142-153 2018 |
| PubMed ID: 30497978 |
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| Shen M, Wang F, Li M, Sah N, Stockton ME, Tidei JJ, Gao Y, Korabelnikov T, Kannan S, Vevea JD, Chapman ER, Bhattacharyya A, van Praag H, Zhao X, Reduced mitochondrial fusion and Huntingtin levels contribute to impaired dendritic maturation and behavioral deficits in Fmr1-mutant mice Nature neuroscience22:386-400 2018 |
| PubMed ID: 30742117 |
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| Mukherjee-Clavin B, Mi R, Kern B, Choi IY, Lim H, Oh Y, Lannon B, Kim KJ, Bell S, Hur JK, Hwang W, Che YH, Habib O, Baloh RH, Eggan K, Brandacher G, Hoke A, Studer L, Kim YJ, Lee G, Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder Nature biomedical engineering3:571-582 2017 |
| PubMed ID: 30962586 |
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| Rovozzo R, Korza G, Baker MW, Li M, Bhattacharyya A, Barbarese E, Carson JH, CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules PloS one11:e0168204 2016 |
| PubMed ID: 28005950 |
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| Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER, Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR Neuromuscular disorders : NMD27:439-446 2016 |
| PubMed ID: 28284873 |
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| Cheng WC, Weng CY, Yun WY, Chang SY, Lin YC, Tsai FJ, Huang FY, Chen YR., Rapid modifications of N-substitution in iminosugars: development of new β-glucocerebrosidase inhibitors and pharmacological chaperones for Gaucher disease. Bioorg Med Chem.21(17):5021-8 2013 |
| PubMed ID: 23880081 |
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| Ong DS, Wang YJ, Tan YL, Yates JR, Mu TW, Kelly JW, FKBP10 Depletion Enhances Glucocerebrosidase Proteostasis in Gaucher Disease Fibroblasts Chemistry & biology21(17):5021-8 2012 |
| PubMed ID: 23434032 |
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| Wehrmann ZT, Hulett TW, Huegel KL, Vaughan KT, Wiest O, Helquist P, Goodson H, Quantitative comparison of the efficacy of various compounds in lowering intracellular cholesterol levels in Niemann-Pick type C fibroblasts PloS one7:e48561 2012 |
| PubMed ID: 23144769 |
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| Loughlin DT1, Artlett CM., Modification of collagen by 3-deoxyglucosone alters wound healing through differential regulation of p38 MAP kinase. PLoS One6(5):e48561 2011 |
| PubMed ID: 21573155 |
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| Duale N, Olsen AK, Christensen T, Butt ST, Brunborg G, Octyl methoxycinnamate modulates gene expression and prevents cyclobutane pyrimidine dimer formation but not oxidative DNA damage in UV-exposed human cell lines Toxicological sciences : an official journal of the Society of Toxicology114:272-84 2010 |
| PubMed ID: 20071424 |
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| Loughlin DT1, Artlett CM., Precursor of advanced glycation end products mediates ER-stress-induced caspase-3 activation of human dermal fibroblasts through NAD(P)H oxidase 4. PLoS One5(6):272-84 2010 |
| PubMed ID: 20559423 |
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| Vitvitsky, V., Witcher, M., Banerjee, R., and Thoene, J., The redox status of cystinotic fibroblasts Mol Genet Metabol99(2010):384-388 2010 |
| PubMed ID: 20061170 |
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| Loughlin DT1, Artlett CM., 3-Deoxyglucosone-collagen alters human dermal fibroblast migration and adhesion: implications for impaired wound healing in patients with diabetes. Wound Repair Regen17(5):739-49 2009 |
| PubMed ID: 19769726 |
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| Sassi-Gaha S, Loughlin DT, Kappler F, Schwartz ML, Su B, Tobia AM, Artlett CM, Two dicarbonyl compounds, 3-deoxyglucosone and methylglyoxal, differentially modulate dermal fibroblasts Matrix biology : journal of the International Society for Matrix Biology29:127-34 2009 |
| PubMed ID: 19800404 |
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| Ladasky JJ, Boyle S, Seth M, Li H, Pentcheva T, Abe F, Steinberg SJ, Edidin M, Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules Journal of immunology (Baltimore, Md : 1950)177:6172-81 2006 |
| PubMed ID: 17056546 |
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| Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E, Kiess W, Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R The Journal of clinical endocrinology and metabolism91:2264-71 2006 |
| PubMed ID: 16569742 |
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| Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, Dreyfuss G, The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy Molecular and cellular biology25:5543-51 2005 |
| PubMed ID: 15964810 |
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| Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group, IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med349(23):2211-22 2003 |
| PubMed ID: 14657428 |
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| Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW, Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a
therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A99(24):15428-33 2002 |
| PubMed ID: 12434014 |
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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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| Gisselsson D, Pettersson L, Hoglund M, Heidenblad M, Gorunova L, Wiegant J, Mertens F, Dal Cin P, Mitelman F, Mandahl N, Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity. Proc Natl Acad Sci U S A97:5357-62 2000 |
| PubMed ID: 10805796 |
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| Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999 |
| PubMed ID: 10428067 |
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| Hotamisligil GS, Breakefield XO, Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet49:383-92 1991 |
| PubMed ID: 1678250 |
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| Winkles JA, O'Connor ML, Friesel R, Altered regulation of platelet-derived growth factor A-chain and c-fos gene expression in senescent progeria fibroblasts. J Cell Physiol144:313-25 1990 |
| PubMed ID: 2166059 |
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| Yee D, Cullen KJ, Paik S, Perdue JF, Hampton B, Schwartz A, Lippman ME, Rosen N, Insulin-like growth factor II mRNA expression in human breast cancer. Cancer Res48:6691-6 1988 |
| PubMed ID: 3180080 |
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| Furlanetto RW, DiCarlo JN, Wisehart C, The type II insulin-like growth factor receptor does not mediate deoxyribonucleic acid synthesis in human fibroblasts. J Clin Endocrinol Metab64:1142-9 1987 |
| PubMed ID: 2952664 |
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| Heath-Monnig E, Wohltmann HJ, Mills-Dunlap B, Daughaday WH, Measurement of insulin-like growth factor I (IGF-I) responsiveness of fibroblasts of children with short stature: identification of a patient with IGF-I resistance. J Clin Endocrinol Metab64:501-7 1987 |
| PubMed ID: 3818890 |
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| Womer RB, Frick K, Mitchell CD, Ross AH, Bishayee S, Scher CD, PDGF induces c-myc mRNA expression in MG-63 human osteosarcoma cells but does not stimulate cell replication. J Cell Physiol132:65-72 1987 |
| PubMed ID: 2439522 |
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| Clemmons DR, Elgin RG, Han VK, Casella SJ, D'Ercole AJ, Van Wyk JJ, Cultured fibroblast monolayers secrete a protein that alters the cellular binding of somatomedin-C/insulinlike growth factor I. J Clin Invest77:1548-56 1986 |
| PubMed ID: 2422210 |
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| Clemmons DR, Shaw DS, Purification and biologic properties of fibroblast somatomedin. J Biol Chem261:10293-8 1986 |
| PubMed ID: 2426261 |
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| Jeeves WP, Rainbow AJ, An aberration in gamma-ray-enhanced reactivation of irradiated adenovirus in ataxia telangiectasia fibroblasts. Carcinogenesis7:381-7 1986 |
| PubMed ID: 3948323 |
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| Fingerman E, Campisi J, Pardee AB, Defective Ca2+ metabolism in Duchenne muscular dystrophy: effects on cellular and viral growth. Proc Natl Acad Sci U S A81:7617-21 1984 |
| PubMed ID: 6095311 |
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| Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C, Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am J Hum Genet36:80-92 1984 |
| PubMed ID: 6141728 |
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| Clemmons DR, Age dependent production of a competence factor by human fibroblasts. J Cell Physiol114:61-7 1983 |
| PubMed ID: 6826661 |
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| Clemmons DR, Shaw DS, Variables controlling somatomedin production by cultured human fibroblasts. J Cell Physiol115:137-42 1983 |
| PubMed ID: 6601662 |
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| Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983 |
| PubMed ID: 6603477 |
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| Li FP, Little JB, Bech-Hansen NT, Paterson MC, Arlett C, Garnick MB, Mayer RJ, Acute leukemia after radiotherapy in a patient with Turcot's syndrome. Impaired colony formation in skin fibroblast cultures after irradiation. Am J Med74:343-8 1983 |
| PubMed ID: 6572034 |
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| Wrathall, Reduced neuronotrophic activity of fibroblasts from individuals with Dysautonomia. J Cell Biol97:243a (1983):343-8 1983 |
| PubMed ID: 6572034 |
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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
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| Smith PJ, Paterson MC, Abnormal responses to mid-ultraviolet light of cultured fibroblasts from patients with disorders featuring sunlight sensitivity. Cancer Res41:511-8 1981 |
| PubMed ID: 6256067 |
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| Smith PJ, Paterson MC, Kraemer KH, In vitro radiosensitivity in a patient with dermatomyositis and cancer [letter] Lancet1:216-7 1981 |
| PubMed ID: 6109878 |
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| Cleaver, Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants. Carcinogenesis1:647 (1980):216-7 1980 |
| PubMed ID: 6109878 |
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| Daddona PE, Frohman MA, Kelley WN, Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains. J Biol Chem255:5681-7 1980 |
| PubMed ID: 7380831 |
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| Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver JE, Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt. Cancer Res40:13-8 1980 |
| PubMed ID: 7349892 |
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| Smith PJ, Paterson MC, Gamma-ray induced inhibition of DNA synthesis in ataxia telangiectasia fibroblasts is a function of excision repair capacity. Biochem Biophys Res Commun97:897-905 1980 |
| PubMed ID: 6162467 |
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| Smith PJ, Paterson MC, Defective DNA repair and increased lethality in ataxia telangiectasia cells exposed to 4-nitroquinoline-1-oxide. Nature287:747-9 1980 |
| PubMed ID: 6776412 |
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| Cleaver JE, Thomas GH, Park SD, Xeroderma pigmentosum variants have a slow recovery of DNA synthesis after irradiation with ultraviolet light. Biochim Biophys Acta564:122-31 1979 |
| PubMed ID: 534635 |
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| Kapp LN, Park SD, Cleaver JE, Replicon sizes in non-transformed and SV 40-transformed cells, as estimated by a bromodeoxyuridine photolysis method. Exp Cell Res123:375-7 1979 |
| PubMed ID: 227704 |
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| Kurz JB, Perkins JP, Buchwald M, Killing of fibroblasts by dexamethasone or dibutyryl adenosine 3',5'- monophosphate is not a valid test for cystic fibrosis. Science206:1317-9 1979 |
| PubMed ID: 229552 |
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| Park SD, Cleaver JE, Postreplication repair: questions of its definition and possible alteration in xeroderma pigmentosum cell strains. Proc Natl Acad Sci U S A76:3927-31 1979 |
| PubMed ID: 291051 |
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| Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484:3927-31 1979 |
| PubMed ID: 291051 |
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| Weil J, Epstein CJ, The effect of trisomy 21 on the patterns of polypeptide synthesis in human fibroblasts. Am J Hum Genet31:478-88 1979 |
| PubMed ID: 158307 |
| Passage Frozen |
13 |
| Split Ratio |
1:2 |
| 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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