GM17536
Fibroblast from Skin, Unspecified
Description:
COCKAYNE SYNDROME TYPE UNSPECIFIED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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East Indian
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Ethnicity
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PAKISTANI
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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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| Passage Frozen |
9 |
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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 |
| |
| Remarks |
CS210BE; clinically affected with atypical cockayne syndrome; severe developmental delay; nonambulatory; no speech or smile; multiple lung infections; microcephaly; leukodystrophy; brain calcifications; no marked sun sensitivity other than skin slightly red when outdoors on rare occasions; no decreased hearing, retinopathy, or cachexia; parents are second cousins (not in repository); two deceased siblings with similar disorder (not in repository); cells showed low repair of the UV treated luciferase plasmid, consistent with Cockayne syndrome, via complementation group testing by use of a post-UV plasmid host cell reactivation assay; further complement plasmid studies containing wild type genes showed the cells were not complemented by wild type XPA, XPB, XPC, XPD, XPF XPG or CSB plasmids; there were normal levels of polymerase eta protein (ruling out Xeroderma Pigmentosum). |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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