GM08680
Fibroblast from Skin, Foreskin
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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Foreskin
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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, Foreskin
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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 |
4.74 |
| Passage Frozen |
3 |
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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 |
Foreskin; 46,XY; 10% of cells show random chromosome loss/gain |
| Windener F, Grewing L, Thomas C, Dorion MF, Otteken M, Kular L, Jagodic M, Antel J, Albrecht S, Kuhlmann T, Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS Acta neuropathologica147:82 2024 |
| PubMed ID: 38722375 |
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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 Genes14:82 2023 |
| PubMed ID: 37239403 |
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| Pazin WM, Miranda RR, Toledo KA, Kjeldsen F, Constantino CJL, Brewer JR, pH-Dependence Cytotoxicity Evaluation of Artepillin C against Tumor Cells Life (Basel, Switzerland)13:82 2023 |
| PubMed ID: 38004326 |
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| Stanescu S, Bravo-Alonso I, Belanger-Quintana A, Pérez B, Medina-Diaz M, Ruiz-Sala P, Flores NP, Buenache R, Arrieta F, Rodríguez-Pombo P, Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature Orphanet journal of rare diseases17:243 2022 |
| PubMed ID: 35729663 |
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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 alliance5:243 2021 |
| PubMed ID: 35440492 |
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| Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E, Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Annals of neurology5:243 2021 |
| PubMed ID: 34652821 |
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| Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E, TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability Genetics in medicine : official journal of the American College of Medical Genetics24:894-904 2021 |
| PubMed ID: 35042660 |
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| Radzikh I, Fatica E, Kodger J, Shah R, Pearce R, Sandlers YI, Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts Metabolites11:894-904 2021 |
| PubMed ID: 34436479 |
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| Ramarajan MG, Saraswat M, Budhraja R, Garapati K, Raymond K, Pandey A, Mass spectrometric analysis of chondroitin sulfate-linked peptides Journal of proteins and proteomics13:187-203 2021 |
| PubMed ID: 36213313 |
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| Juhl AD, Heegaard CW, Werner S, Schneider G, Krishnan K, Covey DF, Wüstner D, Quantitative imaging of membrane contact sites for sterol transfer between endo-lysosomes and mitochondria in living cells Scientific reports11:8927 2020 |
| PubMed ID: 33903617 |
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| Juhl AD, Lund FW, Jensen MLV, Szomek M, Heegaard CW, Guttmann P, Werner S, McNally J, Schneider G, Kapishnikov S, Wüstner D, Niemann Pick C2 protein enables cholesterol transfer from endo-lysosomes to the plasma membrane for efflux by shedding of extracellular vesicles Chemistry and physics of lipids235:105047 2020 |
| PubMed ID: 33422548 |
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| Szomek M, Moesgaard L, Reinholdt P, Haarhøj Hald SB, Petersen D, Krishnan K, Covey DF, Kongsted J, Wüstner D, Membrane organization and intracellular transport of a fluorescent analogue of 27-hydroxycholesterol Chemistry and physics of lipids233:105004 2020 |
| PubMed ID: 33137329 |
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| Bordi M, Darji S, Sato Y, Mellén M, Berg MJ, Kumar A, Jiang Y, Nixon RA, mTOR hyperactivation in Down Syndrome underlies deficits in autophagy induction, autophagosome formation, and mitophagy Cell death & disease10:563 2019 |
| PubMed ID: 31332166 |
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| Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P, Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment Journal of clinical medicine8:563 2019 |
| PubMed ID: 31683770 |
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| Jiang Y, Sato Y, Im E, Berg M, Bordi M, Darji S, Kumar A, Mohan PS, Bandyopadhyay U, Diaz A, Cuervo AM, Nixon RA, Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-ßCTF (C99) The Journal of neuroscience : the official journal of the Society for Neuroscience39:5255-5268 2019 |
| PubMed ID: 31043483 |
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| Petersen D, Reinholdt P, Szomek M, Hansen SK, Poongavanam V, Dupont A, Heegaard CW, Krishnan K, Fujiwara H, Covey DF, Ory DS, Kongsted J, Wüstner D, Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein Biochimica et biophysica acta Biomembranes39:183063 2019 |
| PubMed ID: 31521631 |
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| Uzquiano A, Cifuentes-Diaz C, Jabali A, Romero DM, Houllier A, Dingli F, Maillard C, Boland A, Deleuze JF, Loew D, Mancini GMS, Bahi-Buisson N, Ladewig J, Francis F, Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia Cell reports28:1596-1611.e10 2019 |
| PubMed ID: 31390572 |
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| Berzina Z, Solanko LM, Mehadi AS, Jensen MLV, Lund FW, Modzel M, Szomek M, Solanko KA, Dupont A, Nielsen GK, Heegaard CW, Ejsing CS, Wüstner D, Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts Chemistry and physics of lipids213:48-61 2018 |
| PubMed ID: 29580834 |
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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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| Modzel M, Solanko KA, Szomek M, Hansen SK, Dupont A, Nåbo LJ, Kongsted J, Wüstner D, Live-cell imaging of new polyene sterols for improved analysis of intracellular cholesterol transport Journal of microscopy175:1088-1104 2017 |
| PubMed ID: 29516493 |
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| Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E, Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type Biochimica et biophysica acta1802:959-67 2010 |
| PubMed ID: 20696242 |
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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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| DiDonato CJ, Parks RJ, Kothary R, Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum Gene Ther14(2):179-88 2003 |
| PubMed ID: 12614569 |
| Passage Frozen |
3 |
| 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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