Description:
COCKAYNE SYNDROME TYPE A - 216400
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| 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
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
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 |
| |
| Remarks |
The donor is the clinically unaffected father of 2 affected children. The culture was initiated on 10/21/92 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. A skin fibroblast culture from the same donor is AG12728. |
|
|