GM01352
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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2
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Family History
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Y
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Relation to Proband
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mother
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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; had flexural contractures as a child that did not prevent her from ambulating and improved progressively without correction;history of repeated patella dislocation; examination at age 30 reveals: ear deformity with notching of the helix; high arched palate excavatum; pulmonary function test revealed restrictive abnormalities with vital capacity 66% and predicted maximum breathing capacity 57% of predicted values-limitations felt to be due to her history of surgically corrected pectus excavatum X-ray examination revealed kyphoscoliosis; assistive devices: corrective shoes as a child; family history: donor subject's brother, nephew, father, and son all have similar symptoms; affected son is GM01351. |
| 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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