Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
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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 |
| Alternate IDs |
GM17157 [MUCOPOLYSACCHARIDOSIS TYPE VI] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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2
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Relation to Proband
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mother
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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 Isoenzyme Electrophoresis |
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| Remarks |
Clinically unaffected mother of affected child (GM03722-fibro, GM03723-lymph); family history reveals subject is related to spouse through their grandfather; unaffected daughter (sister of affected child; GM03726-fibro); unaffected spouse (GM03724-fibro, GM03725-lymph); See GM03720 Fibroblast (same donor). |
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