NG09279
DNA from Fibroblast
Description:
PROGEROID SYNDROME, NEONATAL
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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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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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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| 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 had a severe lack of subcutaneous fat at birth. Other clinical features included increased ventricle size, poor weight gain, small body with large head, sunken eyes, blue sclerae, wide open anterior fontanelle, no teeth, sparse scalp hair, and developmental delay. The lung biopsy was taken post-mortem. The culture was initiated on 11/21/86 using explants of minced lung tissue. The cell morphology is fibroblast-like. Culture passaged once at CCR and the PDL is unknown. A matching skin fibroblast culture from same donor is AG09233. |
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