NA09428
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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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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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,der(18)t(2;18)(q33;p11.31)pat.arr 2q33.1q37.3(200079707-242432057)x3,18p11.32p11.31(1542-4421031)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 |
3 |
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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 18: DERIVATIVE CHROMOSOME Aneuploid Segment (-)18pter>18p11 |
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Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (+)2q33>2qter |
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Chromosome 2: DERIVATIVE CHROMOSOME Trisomic Segment 2q33>2qter |
| Remarks |
Ultrasound revealed polyhydramnios at 29 wks gest; sev intrauterine grth retard; agenesis of mandible & ant tongue; microstomia; salivary gland agenesis; VSD; single lft pulmonary vein; pulmonary hypoplasia; pancreatic agenesis |
| 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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