Description:
EHLERS-DANLOS SYNDROME, TYPE VI
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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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|
Transformant
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Untransformed
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|
Race
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Black/African American
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|
Relation to Proband
|
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 |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Dwarfism; extreme scoliosis; joint laxity with multiple dislocations; bilateral club foot; myopia; umbilical hernia; easily dislocated patellae; hyperextensible skin; negative family history |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's MEM with Hank's BSS, with 26mM Hepes; ambient CO2 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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