NA03518
DNA from Fibroblast
Description:
DICENTRIC 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 ug |
| 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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Black/African American
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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,XX,del(13)(q31).arr 13q31.1q34(81655162-114126487)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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: DICENTRIC CHROMOSOME Aneuploid Segment (+)13pter>13q11 |
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Chromosome 13: DICENTRIC CHROMOSOME Aneuploid Segment (-)13q22>13qter |
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Chromosome 13: DICENTRIC CHROMOSOME Trisomic Segment 13pter>13q11 |
| Remarks |
Severe microcephaly, oligodactyly, coloboma, midline scalp defect, hypoplastic nose; passage 2 at IMR |
| 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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| Schwartz, An example of the bridge-breakage-fusion cycle in a child with two different dicentric 13 cell populations. Am J Hum Genet32:87A (1980):1143-9 1980 |
| PubMed ID: 23665875 |
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