NA00636
DNA from Amniotic fluid-derived cell line
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Amniotic fluid
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Cell Type
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Amniotic fluid-derived cell line
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Transformant
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Untransformed
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Sample Source
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DNA from Amniotic fluid-derived cell line
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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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| Passage Frozen |
8 |
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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 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
; FABRY DISEASE |
| Identified Mutation |
1187delAAG |
| Remarks |
46,XY; Alpha-galactosidase deficient; classic phenotype; donor subject is hemizygous for a 3 bp out of frame deletion at nucleotide 1187 in exon 7 of the GLA gene [1187delAAG] |
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