GM01351
Fibroblast from Skin, Buttock-thigh
Description:
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
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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 |
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Biopsy Source
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Buttock-thigh
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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, Buttock-thigh
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Race
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White
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; subject born full-term, double breech delivery; noted to have marked contractures of all joints at time of birth; examination at 3 years old reveals: oval face with slight retrognathia; ears are abnormal with a notched, flat helix and convoluted antihelix; flexion contractures have progressively improved since birth - there is slight 10 degree joint flexion contractures of the elbows and knees, but subject is able to ambulate without assistance; X-rays of the long bone reveal generalized osteopenia; X-rays of thoracic spine reveal slight increase in the interpedicular distance; family history: mother, uncle, cousin, and maternal grandfather all have similar symptoms; affected mother is GM01352. |
| Passage Frozen |
3 |
| 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 |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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