GM14115
LCL from B-Lymphocyte
Description:
CRI-DU-CHAT SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,del(5)(p15.1).ish del(5)(D5S721-, EGR1+)
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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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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p15.1 |
| Remarks |
Line JL18 (human parent of hybrid cell line JH133); del(5)(p15.1) |
| Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ, Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet3:247-52 1994 |
| PubMed ID: 8004090 |
| View |
FISH Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
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FISH Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
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karyotype Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
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karyotype Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
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karyotype Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
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karyotype Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
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karyotype Spectrum Green = D5S721 , Spectrum Orange = EGR-1 |
| Split Ratio |
1:3 |
| 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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