GM17495
Fibroblast from Skin, Unspecified
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIID
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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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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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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 |
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| Remarks |
Clinically affected; no n-acetylglucosamine-6-sulfatase activity; developmental delay; growth delay; ataxia; brain atrophy; strabismus; feeding problems; frequent rashes and dry skin; bicommissural aortic valves and heart murmur; gynecomastia; delayed dentition; abnormal fat distribution |
| Wang F, Moen DR, Sauni C, Kan SH, Li S, Le SQ, Lomenick B, Zhang X, Ekins S, Singamsetty S, Wood J, Dickson PI, Chou TF, Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human a- Molecular pharmaceutics18:214-227 2020 |
| PubMed ID: 33320673 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
Sodium Pyruvate 100mM |
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