Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,t(21;22)(21qter>21p12::22q11.1> 22qter;22pter>22q11.1::21p12>21pter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 21: TRANSLOCATION Breakpoint 21p12 t(21;22)21p12 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(21;22)22q11 |
| Remarks |
Son has unbalanced translocation and Down Syndrome; see GM06943 Lymphoid |
| Cannizzaro LA, Aronson MM, Emanuel BS, In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations. Cytogenet Cell Genet39:173-8 1985 |
| PubMed ID: 3930156 |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| 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 |
- |
|
|