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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,t(2;11)(2qter>2p11.2::11p13> 11pter;11qter>11p13::2p11.2>2pter)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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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 11 |
Gessler and Bruns (Genomics 5:43-55,1989) employed DNA from this cell culture to construct a long range restriction map of part of the short arm of chromosome 11 including the WAGR region using pulsed-field gel electrophoresis and a number of infrequently cutting restriction enzymes. |
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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p13 t(2;11)11p13 |
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Chromosome 2: TRANSLOCATION Breakpoint 2p11 t(2;11)2p11 |
| Remarks |
Hypoplastic lungs; Potter facies; bilateral clubbed feet; bilateral undescended testes; genitourinary dysplasia; kyphoscoliosis |
| Fantes JA, Oghene K, Boyle S, Danes S, Fletcher JM, Bruford EA, Williamson K, Seawright A, Schedl A, Hanson I, et al, A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. Genomics25:447-61 1995 |
| PubMed ID: 7789978 |
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| Junien C, van Heyningen V, Evans G, Little P, Mannens M, Report of the second chromosome 11 workshop. Genomics12:620-5 1992 |
| PubMed ID: 1348491 |
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| Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, et al, Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell60:509-20 1990 |
| PubMed ID: 2154335 |
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| Bickmore WA, Porteous DJ, Christie S, Seawright A, Fletcher JM, Maule JC, Couillin P, Junien C, Hastie ND, van Heyningen V, CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. Genomics5:685-93 1989 |
| PubMed ID: 2556343 |
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| Gessler M, Bruns GA, A physical map around the WAGR complex on the short arm of chromosome 11. Genomics5:43-55 1989 |
| PubMed ID: 2570029 |
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| Seawright A, Fletcher JM, Fantes JA, Morrison H, Porteous DJ, Li SS, Hastie ND, Van Heyningen V, Analysis of WAGR deletions and related translocations with gene- specific DNA probes, using FACS-selected cell hybrids. Somat Cell Mol Genet14:21-30 1988 |
| PubMed ID: 2829363 |
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| Porteous DJ, Bickmore W, Christie S, Boyd PA, Cranston G, Fletcher JM, Gosden JR, Rout D, Seawright A, Simola KO, et al, HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A84:5355-9 1987 |
| PubMed ID: 3037545 |
| 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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