GM02631
LCL from B-Lymphocyte
Description:
CARNOSINEMIA
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
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B-Lymphocyte
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|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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Species
|
Homo sapiens
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|
Common Name
|
Human
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Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Xaa-His dipeptidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.4.13.3; 14% activity. |
| |
| Remarks |
46,XY; 14% of normal plasma Carnosinase activity; profound mental retardation; severe athetoid spastic quadriparesis; optic atrophy; sensory peripheral neuropathy |
| Fleisher LD, Rassin DK, Wisniewski K, Salwen HR, Carnosinase deficiency: a new variant with high residual activity. Pediatr Res14:269-71 1980 |
| PubMed ID: 7375183 |
| Split Ratio |
1:5 |
| 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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