NA08696
DNA from Fibroblast
Description:
DUPLICATED 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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Achilles tendon
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Cell Type
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Fibroblast
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Tissue Type
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Tendon
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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ISCN
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46,XY,dup(18)(q21.3q12.1).ish dup(18)(wcp18+,D18S1390+).arr 18q12.1q12.2(30706845-35051577)x3,18q12.3q21.32(36377268-56587280)x3
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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 |
2 |
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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 |
| |
| Cytogenetics |
Chromosome 18: DUPLICATION Aneuploid Segment (+)18q12>18q22 |
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Chromosome 18: DUPLICATION Trisomic Segment 18q12>18q22 |
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Chromosome 18: MARKER CHROMOSOME Aneuploid Segment (+)18q12>18q22 |
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Chromosome 18: MARKER CHROMOSOME Trisomic Segment 18q12>18q22 |
| Remarks |
Achilles tendon biopsy fibroblast culture; both parents have normal karyotypes |
| 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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