Description:
FABRY DISEASE
GALACTOSIDASE, ALPHA; GLA
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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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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3
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Relation to Proband
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maternal aunt
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
6 |
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| alpha-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.22; 50% activity. |
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| Gene |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
R220X; FABRY DISEASE |
| Identified Mutation |
ARG220TER |
| 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) |
| 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 |
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| 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 |
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| 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 |
| 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 |
- |
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