GM23941
LCL from B-Lymphocyte
Description:
RETT SYNDROME; RTT
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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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Race
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White
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Ethnicity
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ITALIAN-AMERICAN
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Country of Origin
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USA
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Family History
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N
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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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ISCN
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46,XX.arr(1-22,X)x2
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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 |
Affected; subject had a definite period of normal development; head circumference deceleration was noted after age 1; small feet; no purposeful hand use; repetitive hand motions; non-verbal; breathing problems; constipation; bloating; slightly below weight/height norms for age; slight curvature of spine; some rigidity/spasticity; circulation problems; grinds teeth; irritability/agitation; EEG has minor abnormalities; occasional seizures controlled by tegretol and vagal nerve stimulator.
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| Split Ratio |
1:4 |
| 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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