Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
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Repository
|
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
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
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|
Common Name
|
Human
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|
Remarks
|
|
| 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 type unknown; hyperextensible joints; soft, velvety hyperextensible skin; recurrent umbilical and inguinal hernias; bladder diverticulum; aortic dilatation; same donor as GM19543 Lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:7 |
| 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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