GM23432
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP |
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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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Not Hispanic/Latino
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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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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XY,t(9;11)(q34;p11.2).arr[hg19](1-22)x2(XY)x1
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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 |
Reactive airway disease; pulmonary valve stenosis and a small ASD; constipation; occasional aspiration; severe global developmental delay; speech delay; aggressive behaviors including biting, tantrums; some behaviors consistent with pervasive development disorder such as repetitive tipping of objects and spinning of objects; "chubby and very sturdy"; very mild coarse facial features; face shows somewhat thickened skin, but may be due to weight gain in the last year; dry skin |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| View |
FISH FITC detects 9qtel33 (D9S2168), Texas Red detects 11ptel03 (D11S2071), DAPI counterstain |
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FISH FITC detects 9qtel33 (D9S2168), Texas Red detects 11ptel03 (D11S2071), DAPI counterstain |
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karyotype FITC detects 9qtel33 (D9S2168), Texas Red detects 11ptel03 (D11S2071), DAPI counterstain |
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karyotype FITC detects 9qtel33 (D9S2168), Texas Red detects 11ptel03 (D11S2071), DAPI counterstain |
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karyotype FITC detects 9qtel33 (D9S2168), Texas Red detects 11ptel03 (D11S2071), DAPI counterstain |
| 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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