Description:
INVERTED CHROMOSOME
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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 after cell line submission to CCR
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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 |
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| Cytogenetics |
Chromosome 9: INVERSION Breakpoint 9q22.3 |
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Chromosome 9: INVERSION Breakpoint 9q34.1 |
| Remarks |
Hypospadias/ambiguous genetalia; IVF pregnancy with high dose of exogenous progesterone; at 2 years of age the donor had a sudden onset of leukocoria and bilateral cataracts were noted; the left eye had a large posterior lenticonus and the right eye had a very diaphanous posterior capsule, but no defect; the donor underwent surgery and developed normal vision, and at age 9 years was reported to have had normal growth and development; parental karyotypes are normal |
| 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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