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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,t(9;17)(9pter>9q12::17p11>17pter;17qter>17p11::9q12>9qter)[61]/46,XY,ins(3;1)(3pter>3q21::1q25>1q44::3q21>3qter),t(9;17) (9pter>9q12::17p11>17pter;17qter>17p11::9q12>9qter)[39]
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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 1: INSERTION Breakpoint 1q25 ins(3;1)1q25 |
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Chromosome 1: INSERTION Breakpoint 1q44 ins(3;1)1q44 |
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Chromosome 17: TRANSLOCATION Breakpoint 17p11 t(9;17)17p11 |
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Chromosome 3: INSERTION Breakpoint 3q21 ins(3;1)3q21 |
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Chromosome 9: TRANSLOCATION Breakpoint 9q12 t(9;17)9q12 |
| Remarks |
Clinically normal; 61% of cells do not have the insertion (3;1) |
| Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR, Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet72(5):1101-16 2003 |
| PubMed ID: 12649807 |
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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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| Chen SH, Van Tuinen P, Ledbetter DH, Smith LC, Chan L, Human liver fatty acid binding protein gene is located on chromosome 2. Somat Cell Mol Genet12:303-6 1986 |
| PubMed ID: 3012800 |
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| Carrera CJ, Eddy RL, Shows TB, Carson DA, Assignment of the gene for methylthioadenosine phosphorylase to human chromosome 9 by mouse-human somatic cell hybridization. Proc Natl Acad Sci U S A81:2665-8 1984 |
| PubMed ID: 6425836 |
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| Naylor SL, Sakaguchi AY, Barker D, White R, Shows TB, DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22. Proc Natl Acad Sci U S A81:2447-51 1984 |
| PubMed ID: 6585809 |
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| Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB, Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7. Cytogenet Cell Genet35:67-9 1983 |
| PubMed ID: 6297854 |
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| Leinwand LA, Fournier RE, Nadal-Ginard B, Shows TB, Multigene family for sarcomeric myosin heavy chain in mouse and human DNA: localization on a single chromosome. Science221:766-9 1983 |
| PubMed ID: 6879174 |
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| Venta PJ, Shows TB, Curtis PJ, Tashian RE, Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci U S A80:4437-40 1983 |
| PubMed ID: 6410391 |
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| Shows TB, Sakaguchi AY, Naylor SL, Goedell DV, Lawn RM, Clustering of leukocyte and fibroblast interferon genes of human chromosome 9. Science218:373-4 1982 |
| PubMed ID: 6181564 |
| 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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