GM23695
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 after cell line submission to CCR
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ISCN
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46,X,t(X;12)(p11.2;q24.33).ish t(X;12)(D12S2343+,DXZ1+;D12S2343-,DXZ1-)[8]/t(X;12)(D12S2343+,DXZ1+;D12S2343+,DXZ1-)[2].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 |
| |
| Remarks |
Delayed milestones with pattern of progression and plateau, without regression; dysmorphic features including broad nasal bridge, epicanthal folds, macrostomia, and long eyelashes; soft muscles and increased knee jerks (symmetrical) |
| 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 DXZ1, DAPI counterstain |
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FISH FITC detects DXZ1, DAPI counterstain |
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FISH FITC detects D12S2343, DAPI counterstain |
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karyotype FITC detects D12S2343, DAPI counterstain |
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karyotype FITC detects D12S2343, DAPI counterstain |
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karyotype FITC detects D12S2343, 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 |
| Supplement |
- |
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