NG04823
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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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 |
5.63 |
| Passage Frozen |
8 |
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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 |
The donor had typical features of Down syndrome (trisomy 21). The skin biopsy was taken ante-mortem. The culture was initiated on 2/10/81 using explants of minced skin tissue. The karyotype is 47,XY,+21 with 2% of the cells examined showing random chromosome loss. The cell morphology is fibroblast-like. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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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| Curtis ME, Yu D, Praticò D, Dysregulation of the retromer complex system in Down syndrome Annals of neurology10:563 2019 |
| PubMed ID: 32320094 |
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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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| 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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| Flickinger KS, Carter WG, Culp LA, Deficiency in integrin-mediated transmembrane signaling and microfilament stress fiber formation by aging dermal fibroblasts from normal and Down's syndrome patients. Exp Cell Res203:466-75 1992 |
| PubMed ID: 1459206 |
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| Flickinger KS, Culp LA, Dermal fibroblasts from Down's syndrome patients share a cycloheximide- induced deficiency in collagen adhesion responses with normal aging cells. Exp Cell Res189:189-201 1990 |
| PubMed ID: 2142462 |
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