Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,t(2;11)(2qter>2p11.2::11p13> 11pter;11qter>11p13::2p11.2>2pter)mat
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| 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. |
| |
| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p13 t(2;11)11p13 |
|
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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
- |
|