NA00881
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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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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| PDL at Freeze |
2.81 |
| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| alpha-galactosidase |
According to the submitter, biochemical test results for this subject showed no enzyme activity. EC Number: 3.2.1.22; 0% activity. |
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| Gene |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
R220X; FABRY DISEASE |
| Identified Mutation |
ARG220TER |
| Remarks |
No detectable alpha-galactosidase activity; conjuctiva showed lipid deposits in the endothelial cells of the vessel walls; classic phenotype; donor subject is hemizygous 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)] |
| Birket MJ, Raibaud S, Lettieri M, Adamson AD, Letang V, Cervello P, Redon N, Ret G, Viale S, Wang B, Biton B, Guillemot JC, Mikol V, Leonard JP, Hanley NA, Orsini C, Itier JM, A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology Stem cell reports: 2018 |
| PubMed ID: 31378672 |
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| Welford RWD1, Mühlemann A1, Garzotti M1, Rickert V2, Groenen PMA1, Morand O1, Üçeyler N2, Probst MR1., Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types Human Molecular Genetics: 2018 |
| PubMed ID: 29982630 |
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| Romeo, Genetic heterogeneity of alpha-galactosidase in Fabry's disease. FEBS Lett27:161 (1972): 1972 |
| PubMed ID: 29982630 |
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| Romeo G, Migeon BR, Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science170:180-1 1970 |
| PubMed ID: 5466114 |
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