GM13343
LCL from B-Lymphocyte
Description:
LIPASE, CONGENITAL ABSENCE OF PANCREATIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid 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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Relation to Proband
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proband
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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 |
| |
| triacylglycerol lipase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.1.3 |
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| Remarks |
Chronic diarrhea; failure to thrive; height at 10th %ile & weight at 50th %ile; somewhat tympanitic abdomen; secretin stimulated pancreatic function test showed deficiency of lipase activity |
| Hegele RA, Ramdath DD, Ban MR, Carruthers MN, Carrington CV, Cao H, Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits. J Hum Genet46(6):320-4 2001 |
| PubMed ID: 11393534 |
| Split Ratio |
1:5 |
| 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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