GM00804
Amniotic fluid-derived cell line from Amniotic fluid
Description:
CYSTINOSIS, NEPHROPATHIC; CTNS
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
46,XY; increased intracellular level of 1/2 cystine; passage 3 at CCR |
| Steinherz R, Makov N, Narinsky R, Meidan B, Kohn G, Prenatal diagnosis of cystinosis upon exposure of amniotic cells to cystine dimethyl ester. Isr J Med Sci21:537-9 1985 |
| PubMed ID: 4019151 |
| 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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