NA01375
DNA from Fibroblast
Description:
HOMOCYSTINURIA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 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
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Clinically unaffected; confirmed heterozygote; HLA type A2,A11,B27,Bw22; mother of affected child (GM01374); see lymph (GM01463). |
| Jakubowski H, Metabolism of homocysteine thiolactone in human cell cultures. Possible mechanism for pathological consequences of elevated homocysteine levels. J Biol Chem272:1935-42 1997 |
| PubMed ID: 8999883 |
| |
| Kruger WD, Cox DR, A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Hum Mol Genet4:1155-61 1995 |
| PubMed ID: 8528202 |
|
|