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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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 |
6.01 |
| Passage Frozen |
4 |
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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 |
46,XX; 2% of cells show random chromosome loss/gain |
| Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T, CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders ACS synthetic biology13:3926-3935 2024 |
| PubMed ID: 39565688 |
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| Azaria RD, Correia AB, Schache KJ, Zapata M, Pathmasiri KC, Mohanty V, Nannapaneni DT, Ashfeld BL, Helquist P, Wiest O, Ohgane K, Li Q, Fredenburg RA, Blagg BS, Cologna SM, Schultz ML, Lieberman AP, Mutant induced neurons and humanized mice enable identification of Niemann-Pick C1 proteostatic therapies JCI insight13:3926-3935 2024 |
| PubMed ID: 39207850 |
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| Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A, N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts Glycobiology34:3926-3935 2024 |
| PubMed ID: 39360848 |
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| Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T, Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models Cell reports43:113883 2024 |
| PubMed ID: 38430517 |
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| Cotticelli MG, Xia S, Truitt R, Doliba NM, Rozo AV, Tobias JW, Lee T, Chen J, Napierala JS, Napierala M, Yang W, Wilson RB, Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response Disease models & mechanisms16:113883 2023 |
| PubMed ID: 36107856 |
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| Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E, Tracer metabolomics reveals the role of aldose reductase in glycosylation Cell reports Medicine16:101056 2023 |
| PubMed ID: 37257447 |
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| Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L, Mitochondrial dysfunction associated with TANGO2 deficiency Scientific reports12:3045 2022 |
| PubMed ID: 35197517 |
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| Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS, Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy Nature neuroscience25:1420-1433 2022 |
| PubMed ID: 36303071 |
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| Schultz ML, Schache KJ, Azaria RD, Kuiper EQ, Erwood S, Ivakine EA, Farhat NY, Porter FD, Pathmasiri KC, Cologna SM, Uhler MD, Lieberman AP, Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease JCI insight7:1420-1433 2022 |
| PubMed ID: 36301667 |
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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 : MCP7:100094 2021 |
| PubMed ID: 33991687 |
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| Pennarun G, Picotto J, Etourneaud L, Redavid AR, Certain A, Gauthier LR, Fontanilla-Ramirez P, Busso D, Chabance-Okumura C, Thézé B, Boussin FD, Bertrand P, Increase in lamin B1 promotes telomere instability by disrupting the shelterin complex in human cells Nucleic acids research49:9886-9905 2021 |
| PubMed ID: 34469544 |
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| Cotticelli MG, Forestieri R, Xia S, Joyasawal S, Lee T, Xu K, Smith Iii AB, Huryn DM, Wilson RB, Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia ACS chemical neuroscience49:9886-9905 2020 |
| PubMed ID: 32786299 |
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| Liu EA, Schultz ML, Mochida C, Chung C, Paulson HL, Lieberman AP, Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain JCI insight49:9886-9905 2020 |
| PubMed ID: 32931479 |
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| Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G, Intermittent enzyme replacement therapy prevents Neu1 deficiency The Journal of biological chemistry295:13556-13569 2019 |
| PubMed ID: 32727849 |
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| Schultz ML, Fawaz MV, Azaria RD, Hollon TC, Liu EA, Kunkel TJ, Halseth TA, Krus KL, Ming R, Morin EE, McLoughlin HS, Bushart DD, Paulson HL, Shakkottai VG, Orringer DA, Schwendeman AS, Lieberman AP, Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases BMC medicine17:200 2019 |
| PubMed ID: 31711490 |
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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 Biology19:200 2018 |
| PubMed ID: 30567591 |
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| Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M1, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N, The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development Cell175:1088-1104 2018 |
| PubMed ID: 30318146 |
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| Tousley A, Iuliano M, Weisman E, Sapp E, Richardson H, Vodicka P, Alexander J, Aronin N, DiFiglia M, Kegel-Gleason KB, Huntingtin associates with the actin cytoskeleton and a-actinin isoforms to influence stimulus dependent morphology changes PloS one14:e0212337 2018 |
| PubMed ID: 30768638 |
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| Zhang X, Chen W, Gao Q, Yang J, Yan X, Zhao H, Su L, Yang M, Gao C, Yao Y, Inoki K, Li D, Shao R, Wang S, Sahoo N, Kudo F, Eguchi T, Ruan B, Xu H, Rapamycin directly activates lysosomal mucolipin TRP channels independent of mTOR PLoS biology17:e3000252 2018 |
| PubMed ID: 31112550 |
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| Cotticelli MG, Xia S, Kaur A, Lin D, Wang Y, Ruff E, Tobias JW, Wilson RB, Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia Scientific reports8:5007 2017 |
| PubMed ID: 29568068 |
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| Didiot MC, Ferguson CM, Ly S, Coles AH, Smith AO, Bicknell AA, Hall LM, Sapp E, Echeverria D, Pai AA, DiFiglia M, Moore MJ, Hayward LJ, Aronin N, Khvorova A, Nuclear Localization of Huntingtin mRNA Is Specific to Cells of Neuronal Origin Cell reports24:2553-2560.e5 2017 |
| PubMed ID: 30184490 |
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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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| Schultz ML, Krus KL, Kaushik S, Dang D, Chopra R, Qi L, Shakkottai VG, Cuervo AM, Lieberman AP, Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD Nature communications9:3671 2017 |
| PubMed ID: 30202070 |
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| Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Nucleic acids research40:9661-74 2012 |
| PubMed ID: 22904069 |
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| Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K, Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia PloS one7:e47847 2012 |
| PubMed ID: 23082224 |
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| Guo R, Chen J, Mitchell DL, Johnson DG, GCN5 and E2F1 stimulate nucleotide excision repair by promoting H3K9 acetylation at sites of damage Nucleic acids research39:1390-7 2010 |
| PubMed ID: 20972224 |
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| Yasaei H, Slijepcevic P, Defective Artemis causes mild telomere dysfunction Genome integrity1:3 2010 |
| PubMed ID: 20678254 |
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| Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M, Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity Molecular and cellular biology29:6106-16 2009 |
| PubMed ID: 19752198 |
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| Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA, Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia Human molecular genetics17:2265-73 2008 |
| PubMed ID: 18424449 |
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| Meeran SM, Mantena SK, Elmets CA, Katiyar SK, (-)-Epigallocatechin-3-gallate prevents photocarcinogenesis in mice through interleukin-12-dependent DNA repair Cancer research66:5512-20 2006 |
| PubMed ID: 16707481 |
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| Meeran SM, Mantena SK, Katiyar SK, Prevention of ultraviolet radiation-induced immunosuppression by (-)-epigallocatechin-3-gallate in mice is mediated through interleukin 12-dependent DNA repair Clinical cancer research : an official journal of the American Association for Cancer Research12:2272-80 2006 |
| PubMed ID: 16609044 |
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| Pusapati RV, Rounbehler RJ, Hong S, Powers JT, Yan M, Kiguchi K, McArthur MJ, Wong PK, Johnson DG, ATM promotes apoptosis and suppresses tumorigenesis in response to Myc Proceedings of the National Academy of Sciences of the United States of America103:1446-51 2006 |
| PubMed ID: 16432227 |
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| Peng Y, Woods RG, Beamish H, Ye R, Lees-Miller SP, Lavin MF, Bedford JS, Deficiency in the catalytic subunit of DNA-dependent protein kinase causes down-regulation of ATM. Cancer Res65(5):1670-7 2005 |
| PubMed ID: 15753361 |
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| Okayasu R, Takakura K, Poole S, Bedford JS, Radiosensitization of normal human cells by LY294002: cell killing and the rejoining of DNA and interphase chromosome breaks Journal of radiation research44:329-33 2004 |
| PubMed ID: 15031559 |
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| Powers JT, Hong S, Mayhew CN, Rogers PM, Knudsen ES, Johnson DG, E2F1 uses the ATM signaling pathway to induce p53 and Chk2 phosphorylation and apoptosis. Mol Cancer Res2(4):203-14 2004 |
| PubMed ID: 15140942 |
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| Seo H, Sonntag KC, Isacson O, Generalized brain and skin proteasome inhibition in Huntington's disease Annals of neurology56:319-28 2004 |
| PubMed ID: 15349858 |
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| Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL, Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet127A(2):158-166 2004 |
| PubMed ID: 15108204 |
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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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| Jauslin ML, Wirth T, Meier T, Schoumacher F, A cellular model for Friedreich Ataxia reveals small-molecule glutathione
peroxidase mimetics as novel treatment strategy. Hum Mol Genet11(24):3055-63 2002 |
| PubMed ID: 12417527 |
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| Kegel KB, Meloni AR, Yi Y, Kim YJ, Doyle E, Cuiffo BG, Sapp E, Wang Y, Qin ZH, Chen JD, Nevins JR, Aronin N, DiFiglia M, Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription. J Biol Chem277(9):7466-76 2002 |
| PubMed ID: 11739372 |
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| Peng Y, Zhang Q, Nagasawa H, Okayasu R, Liber HL, Bedford JS, Silencing expression of the catalytic subunit of DNA-dependent protein kinase by
small interfering RNA sensitizes human cells for radiation-induced chromosome
damage, cell killing, and mutation. Cancer Res62(22):6400-4 2002 |
| PubMed ID: 12438223 |
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| Shiraha H, Gupta K, Drabik K, Wells A, Aging fibroblasts present reduced epidermal growth factor (EGF) responsiveness due to preferential loss of EGF receptors [In Process Citation] J Biol Chem275:19343-51 2000 |
| PubMed ID: 10764734 |
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| Laderman KA, Penny JR, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G, Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells. J Biol Chem271(27):15891-7 1996 |
| PubMed ID: 8663253 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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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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| 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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| Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D, Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science258:818-21 1992 |
| PubMed ID: 1359641 |
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| Circolo A, Welgus HG, Pierce GF, Kramer J, Strunk RC, Differential regulation of the expression of proteinases/antiproteinases in fibroblasts. Effects of interleukin-1 and platelet-derived growth factor. J Biol Chem266:12283-8 1991 |
| PubMed ID: 1712016 |
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| Circolo A, Pierce GF, Katz Y, Strunk RC, Antiinflammatory effects of polypeptide growth factors. Platelet- derived growth factor, epidermal growth factor, and fibroblast growth factor inhibit the cytokine-induced expression of the alternative complement pathway activator factor B in human fibroblasts. J Biol Chem265:5066-71 1990 |
| PubMed ID: 1690734 |
| Passage Frozen |
4 |
| Split Ratio |
1:6 |
| 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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