NA00882
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 |
5.49 |
| Passage Frozen |
13 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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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; 13-30% activity. |
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| Gene |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
R301G; FABRY DISEASE, CARDIAC TYPE |
| Identified Mutation |
ARG301GLY |
| Remarks |
Italian; history of proteinuria and mild fatigability; 13 to 30% of normal alpha galactosidase activity; cardiac variant; donor subject is hemizygous for a C>G transversion at nucleotide 901 in exon 6 of the GLA gene (901C>G) resulting in the substitution of glycine for arginine at codon 301 [Arg301Gly (R301G)] |
| Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J, Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease The Biochemical journal477:359-380 2019 |
| PubMed ID: 31899485 |
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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 Genetics477:359-380 2018 |
| PubMed ID: 29982630 |
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| Romeo, Genetic heterogeneity of alpha-galactosidase in Fabry's disease. FEBS Lett27:161 (1972):359-380 1972 |
| PubMed ID: 29982630 |
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| Clarke JT, Knaack J, Crawhall JC, Wolfe LS, Ceramide trihexosidosis (fabry's disease) without skin lesions. N Engl J Med284:233-5 1971 |
| PubMed ID: 5539345 |
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