NA07081
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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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,der(15)t(7;15)(q11.2;q11.2)mat.arr 7p22.3p11.19(71785-57836791)x3,15q11.2(19123065-19252286)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 |
6 |
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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 |
| |
| Cytogenetics |
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (-)15pter>15q11 |
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Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7pter>7q11 |
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Chromosome 7: DERIVATIVE CHROMOSOME Trisomic Segment 7pter>7q11 |
| Remarks |
Skin biopsy; microcephaly, hypertelorism, cleft palate and gingiva, left club foot, large fontanel, congenital dislocation of shoulders and hips, congenital heart disease, failure to thrive, and developmental delay |
| 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 |
| |
| Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005 |
| PubMed ID: 16124865 |
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