NG06244
DNA from Fibroblast
Description:
COCKAYNE SYNDROME TYPE A - 216400
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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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 |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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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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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,XX
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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 |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
The donor has clinical features of growth failure, short stature, typical facies, photosensitivity, slow nerve conduction velocities, putamenal calcifications and senile-like changes. The culture was initiated on 10/20/82. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. Culture was frozen at passage 10 and PDL is not known. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular
repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003 |
| PubMed ID: 12665480 |
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| Levinson ED, Zimmerman AW, Grunnet ML, Lewis RA, Spackman TJ, Cockayne syndrome. J Comput Assist Tomogr6:1172-4 1982 |
| PubMed ID: 7174933 |
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