NG05397
DNA from Fibroblast
Description:
TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Thorax
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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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DNA from Fibroblast
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Race
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White
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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 |
5.21 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
The donor had typical features of Down syndrome (trisomy 21). The skin biopsy was taken ante-mortem on 2/17/82. The culture was initiated using explants of minced skin tissue. The karyotype is 47,XY,+21. The cell morphology is fibroblast-like. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022 |
| PubMed ID: 35921774 |
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| Botté A, Lainé J, Xicota L, Heiligenstein X, Fontaine G, Kasri A, Rivals I, Goh P, Faklaris O, Cossec JC, Morel E, Rebillat AS, Nizetic D, Raposo G, Potier MC, Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome Acta neuropathologica communications8:89 2020 |
| PubMed ID: 32580751 |
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| Meharena HS, Marco A, Dileep V, Lockshin ER, Akatsu GY, Mullahoo J, Watson LA, Ko T, Guerin LN, Abdurrob F, Rengarajan S, Papanastasiou M, Jaffe JD, Tsai LH, Down-syndrome-induced senescence disrupts the nuclear architecture of neural progenitors Cell stem cell29:116-130.e7 2020 |
| PubMed ID: 34995493 |
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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 Biomolecules10:116-130.e7 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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| Ahmed AA1, Smoczer C1, Pace B1, Patterson D2,3, Cress Cabelof D1., Loss of DNA polymerase β induces cellular senescence Environmental and Molecular Mutagenesis
29:2473-2488.e5 2018 |
| PubMed ID: 29968395 |
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| Chen JY, Lin JR, Tsai FC, Meyer T., Dosage of Dyrk1a Shifts Cells within a p21-Cyclin D1 Signaling Map to Control the Decision to Enter the Cell Cycle. Mol Cell.52(1):87-100 2013 |
| PubMed ID: 24119401 |
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| Weick JP, Held DL, Bonadurer GF, Doers ME, Liu Y, Maguire C, Clark A, Knackert JA, Molinarolo K, Musser M, Yao L, Yin Y, Lu J, Zhang X, Zhang SC, Bhattacharyya A, Deficits in human trisomy 21 iPSCs and neurons Proceedings of the National Academy of Sciences of the United States of America110:9962-7 2013 |
| PubMed ID: 23716668 |
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| Kinde I, Papadopoulos N, Kinzler KW, Vogelstein B, FAST-SeqS: a simple and efficient method for the detection of aneuploidy by massively parallel sequencing PloS one7:e41162 2012 |
| PubMed ID: 22815955 |
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| Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
| PubMed ID: 18691744 |
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| Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Bricarelli FD, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE, Natural gene-expression variation in down syndrome modulates the outcome of gene-dosage imbalance American journal of human genetics81:252-63 2007 |
| PubMed ID: 17668376 |
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