NG07438
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
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
1.68 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
The donor was diagnosed as Down syndrome (trisomy 21) and displayed typical facies. The skin biopsy was taken post-mortem on 3/15/84 and frozen. The culture was initiated on 06/7/84 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 47,XY,+21. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
|
|