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GM02774 Fibroblast

Description:

FABRY DISEASE
GALACTOSIDASE, ALPHA; GLA

Affected:

No Data

Sex:

Female

Age:

47 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 3
Relation to Proband maternal aunt
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks 50% of normal Alpha gal A, normal Alpha gal B, Xg(a) antigen +/-; two affected sons; two populations of cells, one with normal alpha-galactosidase-A activity and a second with deficient enzyme activity observed using cell sorting; donor subject is heterozygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon [Arg220Ter (R220X)]; donor is also heterozygous for three SNPs: IVS4-16A>G (rs2071397), IVS6-22C>T (rs2071228) and c.1-10C>T (rs2071225)

Characterizations

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Passage Frozen 6
 
alpha-galactosidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.22; 50% activity.
 
Gene GLA
Chromosomal Location Xq22
Allelic Variant 1 R220X; FABRY DISEASE
Identified Mutation ARG220TER

Phenotypic Data

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Remarks 50% of normal Alpha gal A, normal Alpha gal B, Xg(a) antigen +/-; two affected sons; two populations of cells, one with normal alpha-galactosidase-A activity and a second with deficient enzyme activity observed using cell sorting; donor subject is heterozygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon [Arg220Ter (R220X)]; donor is also heterozygous for three SNPs: IVS4-16A>G (rs2071397), IVS6-22C>T (rs2071228) and c.1-10C>T (rs2071225)

Publications

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Kobayashi T, Shinnoh N, Kuroiwa Y, Metabolism of ceramide trihexoside in cultured skin fibroblasts from Fabry's patients, carriers and normal controls. J Neurol Sci65:169-77 1984
PubMed ID: 6090593
 
Jongkind JF, Verkerk A, Niermeijer MF, Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting. Clin Genet23:261-6 1983
PubMed ID: 6303650
 
Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K, Evidence for preferential X-chromosome inactivation in a family with Fabry disease. Am J Hum Genet29:361-70 1977
PubMed ID: 406783

External Links

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dbSNP dbSNP ID: 23035
Gene Cards GLA
Gene Ontology GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004557 alpha-galactosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
NCBI Gene Gene ID:2717
NCBI GTR 300644 GALACTOSIDASE, ALPHA; GLA
301500 FABRY DISEASE
OMIM 300644 GALACTOSIDASE, ALPHA; GLA
301500 FABRY DISEASE
Omim Description ALPHA-GALACTOSIDASE A DEFICIENCY
  ANDERSON-FABRY DISEASE
  ANGIOKERATOMA, DIFFUSE
  CERAMIDE TRIHEXOSIDASE DEFICIENCYGALACTOSIDASE, ALPHA, INCLUDED; GLA, INCLUDED
  FABRY DISEASE
  GLA DEFICIENCY
  HEREDITARY DYSTOPIC LIPIDOSIS

Images

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View pedigree 

Culture Protocols

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Passage Frozen 6
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not inactivated
Substrate None specified
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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