NA02455
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IVB
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
GALACTOSIDASE, BETA-1; GLB1
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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sister
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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 |
3 |
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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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| MUTATION VERIFICATION |
Oshima et al (Am J Hum Genet 49:1091-1093 1991) reported that DNA from this Morquio B disease patient had 2 mutations in the B-galactosidase gene: Trp-273>Leu and Arg-482>His. |
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| Gene |
GLB1 |
| Chromosomal Location |
3p22.3 |
| Allelic Variant 1 |
611458.0009; MUCOPOLYSACCHARIDOSIS, TYPE IVB |
| Identified Mutation |
TRP273LEU; In 3 affected individuals from 2 unrelated families with Morquio syndrome B (MPS4B; 253010), also known as mucopolysaccharidosis type IVB, Oshima et al. (1991) identified compound heterozygosity for 2 mutations in the GLB1 gene. All patients shared a heterozygous 851-852TG-CT change, resulting in a trp273-to-leu (W273L) substitution, and another pathogenic change (R482H, 611458.0010 and W509C, 611458.0011, respectively). The W273L mutant showed 8% residual enzyme activity, but the other mutations expressed no detectable enzyme activity. |
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| Gene |
GLB1 |
| Chromosomal Location |
3p22.3 |
| Allelic Variant 2 |
611458.0010; MUCOPOLYSACCHARIDOSIS TYPE IVB |
| Identified Mutation |
ARG482HIS |
| Remarks |
Normal level of N-acetylgalactosamine 6sulfate sulfatase; low normal beta-galactosidase; donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H) |
| Kiernan RE, Ono A, Englund G, Freed EO, Role of matrix in an early postentry step in the human immunodeficiency virus type 1 life cycle. J Virol72:4116-26 1998 |
| PubMed ID: 9557701 |
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| Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y, Human beta-galactosidase gene mutations in morquio B disease. Am J Hum Genet49:1091-3 1991 |
| PubMed ID: 1928092 |
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