GM07743
LCL from B-Lymphocyte
Description:
DERIVATIVE CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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Asian
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Ethnicity
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JAPANESE
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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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45,X,der(X;21)(Xqter>Xp10::21q10>21qter) .ish dic(X;21)(DXZ1+;D21Z1+)
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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 and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
Severe mental and growth retardation; RBCs show 38% of normal superoxide dismutase-1 activity |
| Nakai, Erythrocyte superoxide dismutase-1 and 21 monosomy. Cytogenet Cell Genet37:547 (1984): 1984 |
| PubMed ID: |
| Split Ratio |
1:5 |
| 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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