NA02030
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 8
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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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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Cell Type
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Fibroblast
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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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47,XY,+8[29]/46,XY[21].arr 8p23.3 q24.3(36385-146268947)x3,17q25.1(69343532-70188895)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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 8: ANEUPLOID Aneuploid Segment (+)8pter>8qter |
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Chromosome 8: ANEUPLOID Trisomic Segment 8pter>8qter |
| Remarks |
In fibroblasts 58% have +8; mental retardation |
| 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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| de la Chapelle A, Icen A, Aula P, Leisti J, Turleau C, de Grouchy J, Mapping of the gene for glutathione reductase on chromosome 8. Ann Genet19:253-6 1976 |
| PubMed ID: 1087855 |
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