GM00919
Amniotic fluid-derived cell line from Amniotic fluid
Description:
HOMOCYSTINURIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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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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ISCN
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46,XX
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| cystathionine gamma-synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.48 |
| |
| Remarks |
46,XX; mother is also affected; deficient cystathionine synthetase activity |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Amniotic Fluid Culture Medium |
| Serum |
none Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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