NA08755
DNA from Fibroblast
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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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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,der(4)t(4;8)(q34;q21.1)mat.arr 4q34.1q35.2(175639694-191254119)x1,8q21.13q21.2(84049805-85700872)x3,8q21.2q24.3(86214483-146174474)x3,10q25.3(115332165-115494362)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 |
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| Cytogenetics |
Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4q34>4qter |
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Chromosome 8: DERIVATIVE CHROMOSOME Aneuploid Segment (+)8q22>8qter |
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Chromosome 8: DERIVATIVE CHROMOSOME Trisomic Segment 8q22>8qter |
| Remarks |
Achilles tendon biopsy; one sister and mother have the balanced translocation; a brother with the unbalanced translocation died at age 6 weeks; mother is GM09192 Lymphoid |
| 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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