NG08942
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
|
Arm
|
|
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 |
4.72 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
The donor was diagnosed as Down syndrome (trisomy 21). The culture was initiated on 03/11/85 from explants of minced skin tissue taken antemortem from the forearm. The cell morphology is fibroblast-like. Same subject as AG27703 (stem cell). |
| Jin M, Ma Z, Jiang P, Generation of iPSC-based human-mouse microglial brain chimeras to study senescence of human microglia STAR protocols3:101847 2022 |
| PubMed ID: 36595906 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Mendonsa G, Dobrowolska J, Lin A, Vijairania P, Jong YJ, Baenziger NL, Molecular profiling reveals diversity of stress signal transduction cascades in highly penetrant Alzheimer's disease human skin fibroblasts PLoS ONE4:e4655 2008 |
| PubMed ID: 19247475 |
| |
| 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 |
| |
| 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 |
| |
| Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ, Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Res Mol Brain Res28(2):319-37 1995 |
| PubMed ID: 7723630 |
| |
| 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 |
| |
| 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 |
|