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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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,X,der(X)(Xpter>Xq11::Yq11>Yqter)
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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 |
11 |
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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 X: DERIVATIVE CHROMOSOME Aneuploid Segment (-)Xq11>Xqter |
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Chromosome Y: DERIVATIVE CHROMOSOME Aneuploid Segment (0)Ypter>Yq11 |
| Remarks |
Secondary amennorrhea |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Tyler-Smith C, Oakey RJ, Larin Z, Fisher RB, Crocker M, Affara NA, Ferguson-Smith MA, Muenke M, Zuffardi O, Jobling MA, Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet5:368-75 1993 |
| PubMed ID: 8298645 |
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| Borgaonkar, Variability in length and frequency of aberrations of the Y chromosome in the population and in spontaneous abortions (from The Y Chromosome, Sandberg, ed., Alan R. Liss, Inc.) "The Y Chromosome"1985, pp 15-26:368-75 1985 |
| PubMed ID: 8298645 |
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| Borgaonkar DS, Sroka BM, Flores M, Letter: Y-to-X translocation in a girl. Lancet1:68-69 1974 |
| PubMed ID: 4128861 |
| Passage Frozen |
11 |
| Split Ratio |
1:2 |
| 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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