AG10390
Fibroblast from Skin, Arm
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 |
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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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Fibroblast from Skin, Arm
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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 has clinical features of failure to thrive, esotropia, nystagmus, microcephaly, developmental delay, severe hypotonia, areflexia, hepatomegaly, cataracts, cafe au lait spot on left knee, and locked-knee gait. He has a similarly affected younger sister. Father is diagnosed as having retinitis pigmentosa. DNA repair studies were consistent with Cockayne syndrome. The biopsy was taken ante-mortem on 9/7/88. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The PDL of the frozen culture is unknown. A skin fibroblast culture from donor's affected sister is AG10391. |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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