NG06922
DNA from Fibroblast
Description:
TRISOMY 21
NIA AGING CELL REPOSITORY DNA PANEL - DOWN SYNDROME
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Thorax/abdomen
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.29 |
| Passage Frozen |
4 |
| |
| 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 |
The donor had typical features of Down syndrome (trisomy 21). The skin biopsy was taken post-mortem on 6/23/83. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. |
| Marentette JO, Anderson CC, Prutton KM, Jennings EQ, Rauniyar AK, Galligan JJ, Roede JR, Trisomy 21 impairs PGE2 production in dermal fibroblasts Prostaglandins & other lipid mediators153:106524 2020 |
| PubMed ID: 33418267 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Pérez-González R, Gauthier SA, Sharma A, Miller C, Pawlik M, Kaur G, Kim Y, Levy E, A pleiotropic role for exosomes loaded with the amyloid ß precursor protein carboxyl-terminal fragments in the brain of Down syndrome patients Neurobiology of aging84:26-32 2019 |
| PubMed ID: 31479861 |
| |
| 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 |
|