GM06801
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
dbGaP |
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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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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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47,XX,der(6)dup(6)(p24)del(6)(q21),+der(14)t(6;14)(q21;q21).arr[hg19] 6p25.3p24.3(149648-9709720)x3,14q11.1q21.2(19002111-45018720)x3
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 14: DERIVATIVE CHROMOSOME Aneuploid Segment (+)14pter>14q21.3 |
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Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (+)6pter>6p24.3 |
| Remarks |
Profoundly retarded; hypertelorism, rounded flat facies; deep set eyes; markedly depressed nasal bridge; short stature. |
| 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 |
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| Allderdice PW, Miller OJ, Miller DA, Breg WR, Gendel E, Zelson C, Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik13:205-9 1971 |
| PubMed ID: 5114675 |
| View |
FISH FITC detects 6pter,Texas Red detects 14qter, DAPI counterstain |
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FISH FITC detects 6pter,Texas Red detects 14qter, DAPI counterstain |
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karyotype FITC detects 6pter,Texas Red detects 14qter, DAPI counterstain |
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karyotype FITC detects 6pter,Texas Red detects 14qter, DAPI counterstain |
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karyotype FITC detects 6pter,Texas Red detects 14qter, DAPI counterstain |
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karyotype FITC detects 6pter,Texas Red detects 14qter, DAPI counterstain |
| Split Ratio |
1:2 |
| 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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