Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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Race
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White
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Relation to Proband
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parent
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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,t(15;17)(15pter>q15::17p13>17pter;17qter>17p13::15q15>15qter)[32]/46,XX, t(15;17)(15pter>q15::17p13>17pter;17qter>17p13::15q15>15qter),t(6;13)(6qter>6p21::13q34>13qter;13pter>q34::6p21>6pter)[16]
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 17 |
A report by vanTuinen et al (Genomics 1:374-381,1987) described the breakpoint on chromosome 17 to be p11.2. This was also confirmed by high resolution banding cytogenetic studies (H. Willard, personal communication) on a peripheral blood specimen. |
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| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13q34 t(6;13)13q34 |
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Chromosome 15: TRANSLOCATION Breakpoint 15q15 t(15;17)15q15 |
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Chromosome 17: TRANSLOCATION Breakpoint 17p13 t(15;17)17p13 |
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Chromosome 6: TRANSLOCATION Breakpoint 6p21 t(6;13)6p21 |
| Remarks |
Culture is a mosaic: at passage 6, 64% have only the t(15;17) and 36% have both; mother of a severely defective child with the unbalanced translocation; analysis with molecular probes shows the breakpoint on 17 to be p11.2 |
| vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH, Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet43:587-96 1988 |
| PubMed ID: 3189330 |
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| van Tuinen P, Rich DC, Summers KM, Ledbetter DH, Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics1:374-81 1987 |
| PubMed ID: 3130306 |
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| Chern CJ, Kennett R, Engel E, Mellman WJ, Croce CM, Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15. Somatic Cell Genet3:553-60 1977 |
| PubMed ID: 341373 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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