Description:
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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 LINE assay |
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| Remarks |
Clinically affected; Chiari I malformation; joint pain; muscle weakness in legs; attached ear lobes; micrognathia; wide palate; long uvula; no gag reflex; blue sclerae; cigarette paper and keloid scarring; piezogenic papules; scoliosis; hyperextension in shoulders, knees, and CMC, MCP, PIP and DIP joints; limited neck mobility; pes planus; sacral dimple; visual floaters; daily headaches; frequent urinary infections; see GM21659 Fibroblast |
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