Description:
CHROMOSOME INSERTION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,ins(11;10)(11pter>11p13:: 10q21>10q24::11p13>11qter;10pter>10q21::10q24>10qter)
|
|
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 10: INSERTION Breakpoint 10q21 ins(11;10)10q21 |
|
Chromosome 10: INSERTION Breakpoint 10q24 ins(11;10)10q24 |
|
Chromosome 11: INSERTION Breakpoint 11p13 ins(11;10)11p13 |
| Remarks |
Phenotypically normal; mother and grandfather carry the same inv ins; normal red blood cell catalase activity |
| 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 |
| |
| Taysi K, Yang V, Monaghan N, Beraha N, Partial trisomy 10q in three unrelated patients. Ann Genet26:79-85 1983 |
| PubMed ID: 6604490 |
| Passage Frozen |
4 |
| 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 |
- |
|
|