NA01013
DNA from Fibroblast
Description:
CYSTIC FIBROSIS; CF
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Quantity |
50 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Country of Origin
|
USA
|
Family Member
|
2
|
Relation to Proband
|
brother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
12 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Clinically affected; elevated sweat chloride; affected brother is GM01014; father is GM01708; |
Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
PubMed ID: 6170925 |
|
|