NA05832
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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,der(18)t(13;18)(q14.1;q23)pat.arr 13q14.11q34(42564369-114126487)x3,18q23(74644584-76116029)x1
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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 |
4 |
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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 (+)13q14>13qter |
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Chromosome 13: DERIVATIVE CHROMOSOME Trisomic Segment 13q14>13qter |
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Chromosome 18: DERIVATIVE CHROMOSOME Aneuploid Segment (-)18q23>18qter |
| Remarks |
Partial trisomy 13; multiple external and internal malformations including brachycephaly, bilateral epicanthus, malformed ears, hexadactyly, vitium cordis, and cystic kidneys |
| 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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| Markie D, Jones TA, Sheer D, Bodmer WF, A somatic cell hybrid panel for regional mapping of human chromosome 18. Genomics14:431-6 1992 |
| PubMed ID: 1427858 |
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| Steinbach, Partial trisomy 13 (q14>qter) due to a familial translocation t(13;18)(q14;q23). Hum Genet58:444 (1981):431-6 1981 |
| PubMed ID: 1427858 |
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