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 |
|
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
|
White
|
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Ethnicity
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ASHKENAZI
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
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
|
Human
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|
Remarks
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|
| Passage Frozen |
2 |
| |
| 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; bruising; chronic joint pain; frequent dislocations and subluxations; joint hypermobility/hyperextensibility; poor wound healing; soft hyperextensible velvet-like skin; affected father; affected paternal aunt is GM19485; same donor as GM19482 Lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| 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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