GM03440
Fibroblast from Skin, Leg
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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Leg
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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, Leg
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Race
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White
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Country of Origin
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USA
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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 |
4.33 |
| Passage Frozen |
7 |
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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 (leg); 46,XY |
| Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2023 |
| PubMed ID: 36899894 |
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| Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG, Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter Human molecular genetics12: 2022 |
| PubMed ID: 35913762 |
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| Malle L, Martin-Fernandez M, Buta S, Richardson A, Bush D, Bogunovic D, Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome Immunity55:2074-2084.e5 2022 |
| PubMed ID: 36243008 |
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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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| Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K, ATM loss disrupts the autophagy-lysosomal pathway Autophagy25:1420-1433 2021 |
| PubMed ID: 32757690 |
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| Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL, Applying Deep Neural Network Analysis to High-Content Image-Based Assays SLAS discovery : advancing life sciences R & D24:829-841 2019 |
| PubMed ID: 31284814 |
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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 Biology19:829-841 2018 |
| PubMed ID: 30567591 |
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| Gudmundsson B1,2,3, Thormar HG1,3, Sigurdsson A1, Dankers W1, Steinarsdottir M2, Hermanowicz S1,4, Sigurdsson S1,4, Olafsson D1,5, Halldorsdottir AM5, Meyn S6,7,8, Jonsson JJ1,2., Northern lights assay: a versatile method for comprehensive detection of DNA damage Nucleic Acids Research19:829-841 2018 |
| PubMed ID: 30053193 |
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| Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G, Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia PloS one14:e0217776 2018 |
| PubMed ID: 31158268 |
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| Larrieu D1, Viré E2, Robson S2, Breusegem SY2, Kouzarides T2, Jackson SP1., Inhibition of the acetyltransferase NAT10 normalizes progeric and aging cells by rebalancing the Transportin-1 nuclear import pathway Science Signaling11:e0217776 2018 |
| PubMed ID: 29970603 |
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| Readhead B, Hartley BJ, Eastwood BJ, Collier DA, Evans D, Farias R, He C, Hoffman G, Sklar P, Dudley JT, Schadt EE, Savic R, Brennand KJ, Expression-based drug screening of neural progenitor cells from individuals with schizophrenia Nature communications9:4412 2018 |
| PubMed ID: 30356048 |
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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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| 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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| Cuajungco MP, Basilio LC, Silva J, Hart T, Tringali J, Chen CC, Biel M, Grimm C, Cellular zinc levels are modulated by TRPML1-TMEM163 interaction Traffic (Copenhagen, Denmark)15:1247-65 2014 |
| PubMed ID: 25130899 |
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| Eichelsdoerfer JL1, Evans JA, Slaugenhaupt SA, Cuajungco MP., Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. J Biol Chem285(45):34304-8 2010 |
| PubMed ID: 20864526 |
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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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| Wilson PF, Nagasawa H, Warner CL, Fitzek MM, Little JB, Bedford JS, Radiation Sensitivity of Primary Fibroblasts from Hereditary Retinoblastoma Family Members and Some Apparently Normal Controls: Colony Formation Ability during Continuous Low-Dose-Rate Gamma Irradiation Radiation research169:483-94 2008 |
| PubMed ID: 18439048 |
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| Kyng KJ, May A, Stevnsner T, Becker KG, Kølvrå S, Bohr VA, Gene expression responses to DNA damage are altered in human aging and in Werner Syndrome Oncogene24:5026-42 2005 |
| PubMed ID: 15897889 |
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| Ha L, Ceryak S, Patierno SR, Generation of S phase-dependent DNA double strand breaks by Cr(VI) exposure: involvement of ATM in Cr(VI) induction of {gamma}-H2AX. CarcinogenesisEpub ahead of print:5026-42 2004 |
| PubMed ID: 15284180 |
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| Sivanandam AS, Mohan S, Kita H, Kapur S, Chen ST, Linkhart TA, Bagi G, Baylink DJ, Qin X, Studies on regulation of IGF (insulin-like growth factor)-binding protein (IGFBP) 4 proteolysis by pregnancy-associated plasma protein-A (PAPP-A) in cells treated with phorbol ester The Biochemical journal379:57-64 2004 |
| PubMed ID: 14705967 |
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| Ha L, Ceryak S, Patierno SR, Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement
of ATM for both apoptosis and recovery from terminal growth arrest. J Biol Chem278(20):17885-94 2003 |
| PubMed ID: 12637545 |
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| Kyng KJ, May A, Kolvraa S, Bohr VA, Gene expression profiling in Werner syndrome closely resembles that of normal aging. Proc Natl Acad Sci U S A100(21):12259-64 2003 |
| PubMed ID: 14527998 |
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| Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular
repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003 |
| PubMed ID: 12665480 |
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| Chen BK, Overgaard MT, Bale LK, Resch ZT, Christiansen M, Oxvig C, Conover CA, Molecular regulation of the IGF-binding protein-4 protease system in human fibroblasts: identification of a novel inducible inhibitor. Endocrinology143(4):1199-205 2002 |
| PubMed ID: 11897673 |
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| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
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| Thurston VC, Zinkowski RP, Binder LI, Tau as a nucleolar protein in human nonneural cells in vitro and in vivo. Chromosoma105:20-30 1996 |
| PubMed ID: 8662255 |
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| Borsi L, Balza E, Gaggero B, Allemanni G, Zardi L, The alternative splicing pattern of the tenascin-C pre-mRNA is controlled by the extracellular pH. J Biol Chem270:6243-5 1995 |
| PubMed ID: 7534307 |
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| Evans HH, Ricanati M, Horng MF, Jiang Q, Mencl J, Olive P, DNA double-strand break rejoining deficiency in TK6 and other human B-lymphoblast cell lines. Radiat Res134:307-15 1993 |
| PubMed ID: 8316623 |
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| Pienta KJ, Getzenberg RH, Coffey DS, Characterization of nuclear morphology and nuclear matrices in ageing human fibroblasts. Mech Ageing Dev62:13-24 1992 |
| PubMed ID: 1560681 |
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| Markello TC, Guo J, Gahl WA, High-performance liquid chromatography of lipids for the identification of human metabolic disease. Anal Biochem198:368-74 1991 |
| PubMed ID: 1799224 |
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| Miao E, Wilson SR, Javitt NB, Cholesterol metabolism. Effect of 26-thiacholesterol and 26- aminocholesterol, analogues of 26-hydroxycholesterol, on cholesterol synthesis and low-density-lipoprotein-receptor binding. Biochem J255:1049-52 1988 |
| PubMed ID: 2850793 |
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| Peterson C, Ratan RR, Shelanski ML, Goldman JE, Altered response of fibroblasts from aged and Alzheimer donors to drugs that elevate cytosolic free calcium. Neurobiol Aging9:261-6 1988 |
| PubMed ID: 3398992 |
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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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| 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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| Saito M, Saito M, Rosenberg A, Influence of monovalent cation transport on anabolism of glycosphingolipids in cultured human fibroblasts. Biochemistry24:3054-9 1985 |
| PubMed ID: 4016085 |
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| Betsholtz C, Westermark B, Growth factor-induced proliferation of human fibroblasts in serum-free culture depends on cell density and extracellular calcium concentration. J Cell Physiol118:203-10 1984 |
| PubMed ID: 6607257 |
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| Saito M, Saito M, Rosenberg A, Action of monensin, a monovalent cationophore, on cultured human fibroblasts: evidence that it induces high cellular accumulation of glucosyl- and lactosylceramide (gluco- and lactocerebroside). Biochemistry23:1043-6 1984 |
| PubMed ID: 6712936 |
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| Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982 |
| PubMed ID: 7104995 |
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| Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982 |
| PubMed ID: 29691375 |
| Passage Frozen |
7 |
| 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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