NG09961
DNA from Fibroblast
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
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
ENGLISH/ITALIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
The donor has clinical features of spastic appearance, sunken eyes with prominent mandible and upper teeth, tight heel cords, optic atrophy, bilateral hearing loss, and minimal growth since age 4. CT scan showed bilateral basal ganglia calcifications and cerebellar calcifications with moderate atrophy of the cortices. Studies of this cell culture done by Dr. James E Cleaver showed it to be clearly UV sensitive with DNA excision repair close to normal (82%). This is consistent with a diagnosis of Cockayne syndrome. The skin biopsy was taken ante-mortem on 1/28/88 from the right forearm. The culture was initiated from explants of minced skin tissue. The morphology is fibroblast-like. Culture was frozen at passage 4 and PDL is not known. |
| Wong PW, Forman P, Tabahoff B, Justice P, A defect in tryptophan metabolism. Pediatr Res10:725-30 1976 |
| PubMed ID: 133325 |
|