HM02820
High Molecular Weight DNA from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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 |
| 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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Black/African American
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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,XX,der(12)t(9;12)(p13;q24)mat.arr 9p24.3p13.3(36586-34486909)x3,12q24.32q24.33(125001581-132287718)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 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 12: DERIVATIVE CHROMOSOME Aneuploid Segment (-)12q24>12qter |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9p13 |
| Remarks |
See GM02819 Fibroblast |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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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 |
| |
| Nobori T, Hexdall LE, Carson DA, A polymorphic region defined by pCN2 (the 3' nontranslated region of N- ras) maps to chromosome 9cen-p12. Hum Genet87:433-7 1991 |
| PubMed ID: 1879830 |
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