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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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Family Member
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1
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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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| PDL at Freeze |
5.4 |
| Passage Frozen |
5 |
| |
| 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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Type II; deficient alpha-L-fucosidase; 46,XY; similarly affected sib; see GM01025 Lymphoid |
| Beratis NG, Kousseff BG, Hirschhorn K, Greene AE, Coriell LL, Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292. Cytogenet Cell Genet15:195-7 1975 |
| PubMed ID: 1192845 |
| dbSNP |
dbSNP ID: 17394 |
| 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 |
| GEO |
GEO Accession No: GSM1266953 |
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GEO Accession No: GSM1267037 |
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GEO Accession No: GSM651112 |
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GEO Accession No: GSM651113 |
| NCBI Gene |
Gene ID:2517 |
| NCBI GTR |
230000 FUCOSIDOSIS |
| OMIM |
230000 FUCOSIDOSIS |
| Omim Description |
ALPHA-L-FUCOSIDASE 1, INCLUDED |
| |
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 |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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