GM01808
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 |
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Biopsy Source
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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
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|
Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Country of Origin
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USA
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Family Member
|
4
|
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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; 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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