GM19491
Fibroblast from Skin, Arm
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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Biopsy Source
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Arm
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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, Arm
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Race
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White
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Ethnicity
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WEST GERMAN
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; EDS hypermobility type; velvety, easily bruised, hyperextensible skin; widened atrophic scars; fatty cysts on shin; calcified hematomas on sides of feet; hypermobile joints with chronic joint pain; recurrent sprains of ankles and wrists; recurrent dislocations of digits, ankles and wrists; pes planus; diverticulosis; has had uterine fibroids and endometriomas removed; complains of nausea, vomiting, diarrhea, and abdominal pain; hiatal and right inguinal hernia; frequent respiratory infections; kidney stones; episodes of hypoglycemia; diminished hearing acuity in both ears; mother has bruising problems; paternal half-sister and several maternal uncles also exhibit some EDS symptoms, but no family members have been clinically diagnosed with EDS; same donor as GM19490 Lymphoid |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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