NA01230
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 |
| 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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Black/African American
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Family Member
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2
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Relation to Proband
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father
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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,t(1;2)(1qter>1p36::2q31>2qter; 2pter>2q31::1p36>1pter)
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1p36 t(1;2)1p36 |
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Chromosome 2: TRANSLOCATION Breakpoint 2q31 t(1;2)2q31 |
| Remarks |
Clinically normal; in situ hybridization studies indicate that the elastin locus is translocated to the 1p+ chromosome |
| Emanuel BS, Cannizzaro L, Ornstein-Goldstein N, Indik ZK, Yoon K, May M, Oliver L, Boyd C, Rosenbloom J, Chromosomal localization of the human elastin gene. Am J Hum Genet37:873-82 1985 |
| PubMed ID: 3840328 |
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| Emanuel BS, Cannizzaro LA, Seyer JM, Myers JC, Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2. Proc Natl Acad Sci U S A82:3385-9 1985 |
| PubMed ID: 3858826 |
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