GM10067
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
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
|
White
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Family Member
|
2
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Relation to Proband
|
father
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,t(7;13)(7pter>7q34::13q12.3> 13qter;13pter>13q12.3::7q34>7qter)
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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 13: TRANSLOCATION Breakpoint 13q12 t(7;13)13q12 |
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Chromosome 13: TRANSLOCATION Breakpoint 13q12.2 |
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Chromosome 7: TRANSLOCATION Breakpoint 7q34 |
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Chromosome 7: TRANSLOCATION Breakpoint 7q34 t(7;13)7q34 |
Remarks |
Clinically normal; spouse of GM10068 (46,XX) & father of a female with holoprosencephaly; see GM10064 Fibroblast |
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 |
|
Mackay M, Fantes J, Scherer S, Boyle S, West K, Tsui LC, Belloni E, Lutz E, Van Heyningen V, Harmar AJ, Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics37:345-53 1996 |
PubMed ID: 8938447 |
View |
FISH FITC detects G31340(7qter), Texas Red detects D13S1825(13qter), DAPI counterstain |
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FISH FITC detects G31340(7qter), Texas Red detects D13S1825(13qter), DAPI counterstain |
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karyotype FITC detects G31340(7qter), Texas Red detects D13S1825(13qter), DAPI counterstain |
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karyotype FITC detects G31340(7qter), Texas Red detects D13S1825(13qter), DAPI counterstain |
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karyotype FITC detects G31340(7qter), Texas Red detects D13S1825(13qter), DAPI counterstain |
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karyotype Composites for 7's and 13's |
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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