GM01019
LCL from B-Lymphocyte
Description:
GAUCHER DISEASE, TYPE III
GLUCOSIDASE, ACID BETA; GBA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 1 |
606463.0003; GAUCHER DISEASE, TYPE I |
| Identified Mutation |
ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population. |
| Remarks |
Father of a Juvenile Gaucher; low-normal acid B-glucosidase; proband not in Repository; donor subject has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG] |
| Simmons JG, Fuller CR, Buchanan PD, Yount WJ, Distribution of surface, cytoplasmic and secreted IgG subclasses in human lymphoblastoid cell lines and normal peripheral blood lymphocytes. Scand J Immunol14:1-13 1981 |
| PubMed ID: 7313555 |
| dbSNP |
dbSNP ID: 18390 |
| Gene Cards |
GBA |
| Gene Ontology |
GO:0004348 glucosylceramidase activity |
|
GO:0005764 lysosome |
|
GO:0005975 carbohydrate metabolism |
|
GO:0006665 sphingolipid metabolism |
|
GO:0007040 lysosome organization and biogenesis |
|
GO:0016020 membrane |
|
GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2629 |
| NCBI GTR |
231000 GAUCHER DISEASE, TYPE III; GD3 |
|
606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
231000 GAUCHER DISEASE, TYPE III; GD3 |
|
606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE |
| |
GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL |
| |
GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPEGAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED |
| |
GAUCHER DISEASE, TYPE III |
| |
GD III |
| |
NORRBOTTNIAN GAUCHER DISEASE, INCLUDED |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|