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NA04394 DNA from Fibroblast

Description:

GAUCHER DISEASE, TYPE I
GLUCOSIDASE, ACID BETA; GBA

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
GeT-RM Samples
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Black/African American
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Hepatosplenomegaly; bone pain; no family history of disease; no neurologic abnormalities at age 2; 5% of control fibroblast glucocerebrosidase activity; donor subject is heterozygous for a T>C transition at nucleotide 1448 in exon 10 of the GBA gene [1448T>C] resulting in a substitution proline for leucine at codon 444 [Leu444Pro (L444P)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG].

Characterizations

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PDL at Freeze 5.85
Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
MUTATION VERIFICATION Wigderson et al (Am J Hum Genet 44:365-377 1989) characterized the human glucocerebrosidase gene from Gaucher disease patients. The results obtained with DNA from this cell culture showed this patient to be heterozygous for a mutant allele. The mutant allele has a T to C transition at codon 444 that causes a substitution of proline for leucine and creates a new NciI restriction site. Two silent changes were found as well: ATT to ATC at amino acid 260 and GTG to GTC at residue 431.
 
MUTATION VERIFICATION The L444P gene mutation in this sample has been verified by 6 laboratories. The S364T mutation has not been verified by multiple labs.
 
glucosylceramidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45; 5% activity.
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 1 606463.0001; GAUCHER DISEASE, NEURONOPATHIC
Identified Mutation LEU483PRO (LEU444PRO), 1448T>C; The leu444-to-pro (L444P) substitution in exon 10 of the GBA gene has been reported as resulting from a 1448T-C transition (Zimran et al., 1989) and from a 6433T-C transition (Latham et al., 1990), depending upon the reference sequence cited. This mutation has alternatively been referred to as LEU483PRO (Saranjam et al., 2013).

Phenotypic Data

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Remarks Hepatosplenomegaly; bone pain; no family history of disease; no neurologic abnormalities at age 2; 5% of control fibroblast glucocerebrosidase activity; donor subject is heterozygous for a T>C transition at nucleotide 1448 in exon 10 of the GBA gene [1448T>C] resulting in a substitution proline for leucine at codon 444 [Leu444Pro (L444P)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG].

Publications

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Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Sasagasako N, Kobayashi T, Yamaguchi Y, Shinnoh N, Goto I, Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity. J Biochem (Tokyo)115:113-9 1994
PubMed ID: 8188616
 
Wigderson M, Firon N, Horowitz Z, Wilder S, Frishberg Y, Reiner O, Horowitz M, Characterization of mutations in Gaucher patients by cDNA cloning. Am J Hum Genet44:365-77 1989
PubMed ID: 2464926
 
Reiner O, Wilder S, Givol D, Horowitz M, Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. DNA6:101-8 1987
PubMed ID: 2438102
 
Beutler E, Kuhl W, Sorge J, Cross-reacting material in Gaucher disease fibroblasts. Proc Natl Acad Sci U S A81:6506-10 1984
PubMed ID: 6593712

External Links

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dbSNP dbSNP ID: 10734
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
Gene ID:2630
NCBI GTR 230800 GAUCHER DISEASE, TYPE I; GD1
606463 GLUCOSIDASE, BETA, ACID; GBA
OMIM 230800 GAUCHER DISEASE, TYPE I; GD1
606463 GLUCOSIDASE, BETA, ACID; GBA
Omim Description ACID BETA-GLUCOSIDASE DEFICIENCY
  GAUCHER DISEASE, NONCEREBRAL JUVENILE
  GAUCHER DISEASE, TYPE I
  GBA DEFICIENCYGLUCOSIDASE, ACID BETA, INCLUDED; GBA, INCLUDED
  GD I
  GLUCOCEREBROSIDASE DEFICIENCY
  GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED
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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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