GM12514
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,X,t(X;2)(Xpter>Xq22::2p25> 2pter;2qter>2p25::Xq22>Xqter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 2: TRANSLOCATION Breakpoint 2p25 t(X;2)2p25 |
|
Chromosome X: TRANSLOCATION Breakpoint Xq22 t(X;2)Xq22 |
| Remarks |
Isolated lissencephaly; FISH analysis with probe D17S379 showed the MillerDieker critical region, 17p13.3, to be intact |
| Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA, Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell92:63-72 1998 |
| PubMed ID: 9489700 |
| |
| Matsumoto N, Pilz DT, Fantes JA, Kittikamron K, Ledbetter DH, Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. J Med Genet35:829-32 1998 |
| PubMed ID: 9783706 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|