NG07946
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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Black/African American
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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,XY
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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 |
19 |
| Passage Frozen |
13 |
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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 and by Chromosome Analysis |
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| Remarks |
The donor has features of dwarfism, mental retardation, orbital fat atrophy, optic atrophy, pigmentary retinal changes and facies characteristic of Cockayne syndrome. The culture was initiated on 11/2/84 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. The culture was frozen at PDL 19. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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