GM22068
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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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; reduced n-terminal peptide for collagen I; sister has Von Hippel-Lindau syndrome; epicanthal folds; malar hypoplasia; attached pinna; abnormal gross hearing; mild micrognathia; high palate; absent gag reflex; blue sclerae; abnormal chest wall; downsloping ribs; pectus excavatum; rales; decreased breathing sounds; abdominal tenderness; grade 2/6 USB systolic murmur; left and right carotid bruit; cyanosis of hands and feet; soft hyperextensible skin; cigarette paper scars; poor wound healing; easy bruising; piezogenic papules; lumbar scoliosis; limitation in both shoulders; hyperextension in elbows, left hip, left knee, and CMC, MCP, PIP and DIP joints; pain upon passive motion in both shoulders; tenderness in CMC, MCP, PIP and DIP joints; neck mobility limited in all directions; Beighton score 7/9; headache with increased blood pressure; hearing loss in left ear; constipation; resolved history of incontinence; severe hypoplasia of left anterior cerebral artery; irregularly small left carotid artery siphon; degenerative changes of the cervical discs from C4 to C7; mild thoracic scoliosis; thoracic vertebral bodies mottled; severe osteoarthritis of the lumbar facets; see GM22069 Fibroblast |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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