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
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
47,XY,+21
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 culture was initiated on 9/23/87 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. Karyotype is 47,XY,+21. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC, The human inactive X chromosome modulates expression of the active X chromosome Cell genomics3:100259 2022 |
| PubMed ID: 36819663 |
| |
| Spellman C, Ahmed MM, Dubach D, Gardiner KJ, Expression of trisomic proteins in Down syndrome model systems Gene512:219-25 2012 |
| PubMed ID: 23103828 |
|
|