GM01559
LCL from B-Lymphocyte
Description:
HOMOCYSTINURIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Biopsy Source
|
Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
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Race
|
White
|
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Country of Origin
|
USA
|
|
Family Member
|
2
|
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Relation to Proband
|
father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected; HLA type A3,A10,Bw15,B27; father of affected proband GM00584 (Fibro)/GM01560 (Lymph); see fibro GM00585.
|
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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