GM03336
Amniotic fluid-derived cell line from Amniotic fluid
Description:
HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510
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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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Race
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White
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Family Member
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1
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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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| alkaline phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.1 |
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| Remarks |
46,XX; severe in utero onset form; deficient alkaline phosphatase; passage 5 at CCR; parents are GM03327 and GM03328 Fibroblast; see also GM03502 Fibroblast |
| Split Ratio |
1:4 |
| 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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