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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family History
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N
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Relation to Proband
|
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,t(4;14;11)(q34.1;q21;q22.2).ish t(4;14;11)(4qtel11-,D11S4974+;D14Z1+,D14S1420-,4qtel11+;D11S4974-,D14S1420+).arr 14q12q21.1(26977446-38522578)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 LINE assay |
| |
| Remarks |
Microcephaly; mental retardation; possible lissencephaly; gastric tube; tracheotomy; status post patent ductus arteriosis ligation. |
| 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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