Description:
CHROMOSOME INSERTION
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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 before cell line submission to CCR
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ISCN
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46,XY,ins(11;6)(p14;q24q23).ish ins(11;6)(p14;q24q23)(wcp6+,wcp11+).arr Yq11.223q11.23(24730684-26058046)x0,10q22.1q22.3(74240578-78415351)x1,10q23.31q23.32(91189465-93020188)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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Cytogenetics |
Chromosome 11: INSERTION Breakpoint 11p14 ins(11;6)11p14 |
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Chromosome 6: INSERTION Breakpoint 6q23 ins(11;6)6q23 |
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Chromosome 6: INSERTION Breakpoint 6q24 ins(11;6)6q24 |
| Remarks |
Developmental delay; choroidal coloboma; absent middle finger on right hand |
| 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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