HM22397
High Molecular Weight DNA from B-Lymphocyte
Description:
DUPLICATED CHROMOSOME
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
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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High Molecular Weight DNA from B-Lymphocyte
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Race
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White
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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,XY,dup(15)(q11q13).ish dup(15)(q11q13)(D15Z1+,GABRB3 enh,D15S11 enh).arr 15q11.2q13.1(21245026-26500067)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 LINE assay |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Cytogenetics |
Chromosome 15: DUPLICATION Aneuploid Segment (+)15q11>15q12 |
| Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Journal of translational medicine21:378 2023 |
| PubMed ID: 37301971 |
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| 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 Spectrum Green detects D15Z1 ; Spectrum Orange detects GABRB3 |
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FISH Spectrum Green detects D15Z1 ; Spectrum Orange detects D15S11 |
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karyotype Spectrum Green detects D15Z1 ; Spectrum Orange detects D15S11 |
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MicroArray Chromosome 15 Zoom View |
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MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
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