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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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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Clinical summary/Case history
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ISCN
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46,XY,t(4;11)(4pter>4q25::11p13>11pter; 11qter>11p13::4q25>4qter)mat
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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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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p13 t(4;11)11p13 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q25 t(4;11)4q25 |
| Remarks |
Bilateral vertical talus; epicanthal folds |
| Sanford J, Kim BW, Deaven LL, Jones C, Higgins MJ, Nowak NJ, Shows TB, A human chromosome 11 NotI end clone library. Genomics15:653-8 1993 |
| PubMed ID: 8468060 |
| |
| Lebo RV, Cheung MC, Bruce BD, Riccardi VM, Kao FT, Kan YW, Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes. Hum Genet69:316-20 1985 |
| PubMed ID: 2985490 |
| |
| Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW, High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science225:57-9 1984 |
| PubMed ID: 6587566 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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