Description:
DERIVATIVE 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
DGAP
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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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47,XX,+der(14)t(12;14)(q24.31;q32.3)mat[8]/46,XX,der(14)t(12;14)(q24.31;q32.3)mat[2].ish der(14)t(12;14)(q24.31;q32.3)(D12S2343+).arr 12q24.31q24.33(120695403-132287718)x3,14q11.2q32.32(19487380-102539124)x2˜3,14q32.33(105472708-106271867)x0
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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 |
| |
| Remarks |
Ocular colobomas, Wilm's tumor diagnosed at 8 months of age; developmental delay; seizures at approximately 2 years of age; mild dysmorphism including: mild frontal bossing, right ptosis, somewhat narrow nostrils and flat columella, thin and down-turned upper lip; MRI showed a thin corpus callosum |
| 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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