GM00636
Amniotic fluid-derived cell line from Amniotic fluid
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 |
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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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Amniotic fluid-derived cell line from Amniotic fluid
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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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| 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 |
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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] |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Amniotic Fluid Culture Medium |
| Serum |
none Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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