NA14525
DNA from Smooth muscle
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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Leiomyoma
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Cell Type
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Smooth muscle
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Tissue Type
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Uterine muscle
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Transformant
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Untransformed
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Sample Source
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DNA from Smooth muscle
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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,XX,t(12;14)(q?14;q?24).arr(1-22,X)x2
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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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| Passage Frozen |
3 |
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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 12: TRANSLOCATION Breakpoint 12q14 t(12;14)12q14 |
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Chromosome 12: TRANSLOCATION Breakpoint 12q15 t(12;14)12q15 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q24 t(12;14)14q24 |
| Remarks |
Leiomyoma; FISH with lambda clones from the HMGI-C locus indicates the t(12;14) breakpoint is approximately 10 kb upstream of exon 1 of HMGI-C on chromosome 12 |
| 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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