Description:
HOMOCYSTINURIA
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
25 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
|
|
Country of Origin
|
USA
|
|
Family Member
|
4
|
|
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 Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected; confirmed heterozygote; HLA type A2,A10,B12,B27; father of 3 affected children (GM00751, GM00752, and GM00885); see fibro (GM00753). |
| 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 |
| |
| Reed ML, Leff SE, Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet6:163-7 1994 |
| PubMed ID: 7512861 |
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