NA20273
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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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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DNA from Fibroblast
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Race
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White
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Ethnicity
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LEBANESE
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Relation to Proband
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proband
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Confirmation
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Molecular 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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| PDL at Freeze |
5.34 |
| Passage Frozen |
13 |
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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 |
crossover between GBA and pseudogene; GAUCHER DISEASE, TYPE II OR III |
| Identified Mutation |
RECOMBINANT (EXON 9) |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 2 |
crossover between GBA and pseudogene; GAUCHER DISEASE, TYPE II OR III |
| Identified Mutation |
RECOMBINANT (EXON 9) |
| Remarks |
Clinically affected; fetal hydrops; hepatosplenomegaly noted prenatally; abnormal fetal movements in utero; congenital ichthyosis; infant died within 2 hours of birth; autopsy revealed colloidin-type skin, ectropia of eyes, flattened nose, absent palmar and distal pharyngeal flexure creases, flexion deformities of the left fifth finger and knee, low-set ears, hypoplastic nails and digits, massive hepatosplenomegaly, bilateral eventration of the diaphragm, ventricular septal defect, and biventricular hypertrophy; neonatal blood testing revealed thrombocytopenia, markedly raised white cell count, raised alkaline phosphatase, raised lactate and pyruvate; biopsies from all organs showed infiltration with cells characteristic of Gaucher's; leucocyte B-glucocerebrosidase activity was markedly deficient; donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene. |
| Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E, Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat15(2):181-8 2000 |
| PubMed ID: 10649495 |
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| Rowlands S, Murray H, Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth Prenatal diagnosis17:765-9 1997 |
| PubMed ID: 9267901 |
| 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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