GM19490
LCL from B-Lymphocyte
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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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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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| 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 GM19491 Fibroblast |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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