Description:
COCKAYNE SYNDROME TYPE A - 216400
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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 |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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GERMAN/INDIAN
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Family Member
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1
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Relation to Proband
|
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 has clinical features of neurodevelopmental delay, cataracts, cerebral calcification, high arched palate, mildhypotonia, impaired swallowing, and poor motor skills. Donor's deceased sister had similar symptoms. The culture was initiated on 10/21/92 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. A skin fibroblast culture from same donor is AG12724A. |
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