Description:
TRANSLOCATED CHROMOSOME
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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1
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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,t(7;10)(p21;q11.2).arr 2q13(112215169-112636814)x3,7p21.3(9035295-9924946)x1,7p21.3(10083088-10370792)x1,7p21.3p21.2(12592366-14567559)x1,10q11.23q21.1(52776087-56773211)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 Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 10: TRANSLOCATION Breakpoint 10q11 t(7;10)10q11 |
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Chromosome 7: TRANSLOCATION Breakpoint 7p21 t(7;10)7p21 |
| Remarks |
Congenital malformations; severe retardation; see GM00044 Fibroblast; deletion of 7p21.2p22.1 |
| 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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| Yount WJ, Utsinger PD, Hutt LM, Buchanan PD, Korn JH, Fuller CR, Logue M, Pagano JS, Subpopulations of human lymphoblastoid cell lines. Correlation with the expression of surface receptors and content of Epstein-Barr virus genome. Scand J Immunol5:795-810 1976 |
| PubMed ID: 62390 |
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