GM21262
Fibroblast from Skin, Unspecified
Description:
GALACTOSIALIDOSIS; GSL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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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 LINE assay |
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| beta-galactosidase |
According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23; <20% activity. |
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| exo-alpha-sialidase |
According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18; 0% activity. |
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| Remarks |
Clinically affected; born with non-immune fetal hydrops; died at age 6 weeks; low beta-galactosidase activity in leukocytes(31; normal range 150-500 ) and no sialidase activity in cultured skin fibroblasts (0; normal range 60-200 ); increased sialic acid |
| Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G, Intermittent enzyme replacement therapy prevents Neu1 deficiency The Journal of biological chemistry295:13556-13569 2019 |
| PubMed ID: 32727849 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Supplement |
- |
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