NA14760
DNA from Chorionic villus-derived cell line
Description:
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II, MAJEWSKI TYPE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Chorionic villus
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Cell Type
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Chorionic villus-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 Chorionic villus-derived cell line
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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Chorion fibro cult; intrauterine demise; Majewski type short rib-polydactyly; anomalous heart vessels; short limbs with tubular long bones; fused duplicated thumbs & great toes; bone histology is abnormal; see GM14758 amnionic fibro |
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