NA02018
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 |
10 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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Clinical summary/Case history
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ISCN
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45,XX,der(13;13)(13pter->13q34::?13q12->13qter)
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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 |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (-)13pter>13q12 |
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Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (-)13q34>13qter |
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Chromosome 13: DICENTRIC CHROMOSOME Aneuploid Segment (-)pter->q33->p11.1->qter |
| Remarks |
Delayed psychomotor development; multiple anomalies; hyperkinesis |
| 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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| Kohn G, Cohen MM, Aronson MM, Greene AE, Coriell LL, A 13;13 tandem chromosome translocation in a subject with congenital anomalies. Repository identification No. GM-2018. Cytogenet Cell Genet24:72 1979 |
| PubMed ID: 456042 |
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