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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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PUERTO RICAN
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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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| Passage Frozen |
6 |
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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 |
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| alpha-L-fucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.51 |
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| Remarks |
Puerto Rican; hepatomegaly; psychomotor delays; hearing deficit; short stature; poor dentition; subtle coarsening of facial features; clear skin; abnormal lysosomes; fibroblasts show a deficiency of alpha-L-fucosidase |
| dbSNP |
dbSNP ID: 19679 |
| Gene Ontology |
GO:0004560 alpha-L-fucosidase activity |
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GO:0005737 cytoplasm |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006027 glycosaminoglycan catabolism |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2517 |
| NCBI GTR |
230000 FUCOSIDOSIS |
| OMIM |
230000 FUCOSIDOSIS |
| Omim Description |
ALPHA-L-FUCOSIDASE 1, INCLUDED |
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ALPHA-L-FUCOSIDASE DEFICIENCYFUCOSIDASE, ALPHA-L, 1, INCLUDED; FUCA1, INCLUDED |
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FUCOSIDASE, ALPHA-L, TISSUE, INCLUDED; FUCA, INCLUDED |
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FUCOSIDOSIS |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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