NG10400
DNA from Fibroblast
Description:
COCKAYNE SYNDROME TYPE A - 216400
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ENGLISH/IRISH
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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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| PDL at Freeze |
3 |
| Passage Frozen |
1 |
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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 |
The donor has clinical features of mental retardation, profound hearing loss, near blindness due to bilateral band keratopathy, bladder atony, and flexion contractures of the lower extremities. She is wheel chair bound and is receiving treatment for Insulin-resistant diabetes. The biopsy was taken ante-mortem on 2/15/89. The culture was initiated using explants of minced skin tissue. The morphology is fibroblast-like. Culture is frozen at PDL 3. |
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