Description:
TRANSLOCATED CHROMOSOME
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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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47,Y,t(X;14)(Xpter>Xq13.2::14q32.2>14qter; 14pter>14q32.2::Xq13.2>Xqter),+der(14)(14pter>14q32.2::Xq13.2>Xqter)mat
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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 14: DERIVATIVE CHROMOSOME Aneuploid Segment (+)14pter>14q13 |
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Chromosome 14: DERIVATIVE CHROMOSOME Aneuploid Segment (+)14pter>14q32 |
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Chromosome 14: DERIVATIVE CHROMOSOME Breakpoint 14q32 t(X;14)14q32 |
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Chromosome 14: DERIVATIVE CHROMOSOME Trisomic Segment 14pter>14q32 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q13 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q32 t(X;14)14q32 |
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Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Xq13>Xqter |
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Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Xq13>Xqter |
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Chromosome X: DERIVATIVE CHROMOSOME Breakpoint Xq13 t(X;14)Xq13 |
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Chromosome X: DERIVATIVE CHROMOSOME Trisomic Segment Xq13>Xqter |
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Chromosome X: TRANSLOCATION Breakpoint Xq13 t(X;14)Xq13 |
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Chromosome X: TRANSLOCATION Breakpoint Xq32 |
| Remarks |
See GM00074 Fibroblast; Klinefelter syndrome; trisomic for 14pter>14q32; in fibroblasts, der(14) is late replicating in 88% of cells |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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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 |
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