HM05394
High Molecular Weight 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 |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
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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High Molecular Weight 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(4)t(4;9)(q34;p13)mat.arr 4q34.3q35.2(180450544-191254119)x1,8p23.1(7204273-7836249)x1,9p24.3p13.3(36586-35405698)x3
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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 Chromosome Analysis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4q35>4qter |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9p21 |
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Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9p21 |
| Remarks |
Prominent forehead, low set ears, flat nasal bridge, high arched palate, micrognathia, short neck, bilateral simian crease, and hypoplastic toenails |
| 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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| Nobori T, Hexdall LE, Carson DA, A polymorphic region defined by pCN2 (the 3' nontranslated region of N- ras) maps to chromosome 9cen-p12. Hum Genet87:433-7 1991 |
| PubMed ID: 1879830 |
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