GM10079
LCL from B-Lymphocyte
Description:
ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic 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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Family Member
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3
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Relation to Proband
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parent
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 20% activity. |
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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 41% activity. |
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| Remarks |
Clinically unaffected; 41% of RBC & 20% of normal peripheral blood lymphocyte ADA activity; 1 son with partial ADA deficiency & 1 son with Nezelof syndrome; proband not in Repository |
| Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE, Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency [see comments] Nat Genet13:290-5 1996 |
| PubMed ID: 8673127 |
| Split Ratio |
1:4 |
| 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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