GM08447
Fibroblast from Skin, Ear
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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Ear
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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, Ear
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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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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 |
7.39 |
| 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 |
| |
| Remarks |
Skin biopsy (right ear tag); 46,XX; 10% of cells show random chromosome loss/gain |
| Lee SE, Baxter LL, Duran MI, Morris SD, Mosley IA, Fuentes KA, Pennings JLA, Guedj F, Bianchi DW, Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells Human molecular genetics: 2024 |
| PubMed ID: 39533854 |
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| 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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| 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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| Barone S, Sarogni P, Valli R, Pallotta MM, Silvia G, Frattini A, Khan AW, Rapalini E, Parri C, Musio A, Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile International journal of molecular sciences21:2074-2084.e5 2020 |
| PubMed ID: 32178390 |
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| Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:2074-2084.e5 2020 |
| PubMed ID: 32340322 |
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| Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019 |
| PubMed ID: 31747614 |
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| Cukrov D1, Newman T2, Leask M2, Leeke B2, Sarogni P1, Patimo A1, Kline AD3, Krantz ID4, Horsfield J2, Musio A, Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo Human Molecular Genetics29:2473-2488.e5 2018 |
| PubMed ID: 29860495 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
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| Li CM, Guo M, Salas M, Schupf N, Silverman W, Zigman WB, Husain S, Warburton D, Thaker H, Tycko B, Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21 BMC medical genetics [electronic resource]7:24 2005 |
| PubMed ID: 16539728 |
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| Machwe A, Orren DK, Bohr VA, Accelerated methylation of ribosomal RNA genes during the cellular senescence of
Werner syndrome fibroblasts. FASEB J14(12):1715-24 2000 |
| PubMed ID: 10973920 |
| Cumulative PDL at Freeze |
9.7 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| 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 |
10% fetal bovine serum Not inactivated |
| Supplement |
- |
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