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NA10915 DNA from Fibroblast

Description:

GAUCHER DISEASE, TYPE I
GLUCOSIDASE, ACID BETA; GBA

Affected:

Yes

Sex:

Male

Age:

7 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
Class Disorders of Lipid Metabolism
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity ITALIAN
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Italian; expired age 7.5; severe hepatosplenomegaly; bilateral sensorineural hearing loss; no other CNS findings; parents 1st cousins; 7% of normal fibroblast B-glucosidase activity; donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444, Pro for Leu [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 5.84
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
glucosylceramidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45; 7% 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).
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 2 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 Italian; expired age 7.5; severe hepatosplenomegaly; bilateral sensorineural hearing loss; no other CNS findings; parents 1st cousins; 7% of normal fibroblast B-glucosidase activity; donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444, Pro for Leu [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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Kita N, Hamamoto A, B Gowda SG, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis Journal of lipid research:100508 2023
PubMed ID: 38280458
 
Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T, The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase EBioMedicine38:142-153 2018
PubMed ID: 30497978
 
García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutierrez A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R, N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease Movement disorders : official journal of the Movement Disorder Society38:142-153 2017
PubMed ID: 28779532
 
Kim SJ, Kang S, Kim JB, Possible therapeutic effects of myxobacterial metabolites on type I Gaucher disease Gene504:156-9 2012
PubMed ID: 22634098
 
Lee YJ, Kim SJ, Heo TH, Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress Biochemical and biophysical research communications413:254-8 2011
PubMed ID: 21884680
 
Theophilus B, Latham T, Grabowski GA, Smith FI, Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet45:212-25 1989
PubMed ID: 2502917

External Links

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dbSNP dbSNP ID: 11448
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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International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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