Description:
EHLERS-DANLOS SYNDROME, TYPE III
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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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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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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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|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; EDS, hypermobility type based on clinical evaluation; small hard lumps under skin at trauma sites; hypermobilty; smooth skin with atypical scarring; frequent joint dislocation and pain since childhood; collagen analysis performed on a skin biopsy was normal ruling out most of the vascular and some forms of the arthrochalasia and dermatosparaxis types of EDS; slow healing; easy bruising; arthritis and joint pain; striae on abdomen; thinning of scarring; increased extensibility at elbows; arthritic changes and decreased movement in fingers; ruptured discs; myopia and a stigmatism; decrease in kyphosis at the neck and increased lordosis in lower back; mother with history of mixed connective tissue disorder disorder; same donor as GM19481 Lymphoblast |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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