NA00878
DNA from Fibroblast
Description:
GAUCHER DISEASE, TYPE II
GLUCOSIDASE, ACID BETA; GBA
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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 Lipid 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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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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| PDL at Freeze |
4.54 |
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| glucosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 1 |
606463.0009; GAUCHER DISEASE, TYPE I OR II, DUE TO 'PSEUDOPATTERN' MUTATION |
| Identified Mutation |
LEU444PRO; ALA456PRO; VAL460VAL; In 3 non-Jewish type I and 1 non-Jewish type II patients, Hong et al. [DNA Cell Biol 9: 233 (1990)] found a mutant allele containing 3 single-base substitutions in codons 444, 456, and 460. These mutations were leu444 (CTG) to pro (CCG), ala456 (GCT) to pro (CCT), and val460 (GTG) to val (GTC). This mutant allele was referred to as 'pseudopattern' because it has sequence identical to a small region of exon 10 in the pseudogene {Horowitz et al. [Genomics 4:87 (1989)]}. |
| Remarks |
Carrier level of fibroblast glucosylceramide B-glucosidase activity; clinically unaffected mother of GM00877; donor subject has a T>C transition at nucleotide 1448 in exon 10 of the GBA gene (1448T>C) resulting in a substitution of proline for leucine at codon 444 [Leu444Pro (L444P)]; there are two additional base substitutions: 1483G>C and 1497G>C [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG] |
| Basgalupp SP, Siebert M, Ferreira C, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD, Assessment of cellular cobalamin metabolism in Gaucher disease BMC medical genetics21:12 2019 |
| PubMed ID: 31931749 |
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| Latham T, Grabowski GA, Theophilus BD, Smith FI, Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet47:79-86 1990 |
| PubMed ID: 2349952 |
| dbSNP |
dbSNP ID: 22301 |
| Gene Cards |
GBA |
| Gene Ontology |
GO:0004348 glucosylceramidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006665 sphingolipid metabolism |
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GO:0007040 lysosome organization and biogenesis |
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GO:0016020 membrane |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2629 |
| NCBI GTR |
230900 GAUCHER DISEASE, TYPE II; GD2 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
230900 GAUCHER DISEASE, TYPE II; GD2 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE |
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GAUCHER DISEASE, INFANTILE CEREBRAL |
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GAUCHER DISEASE, TYPE II |
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GD II |
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