NA04403
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,t(11;22)(11pter>11q23::22q11> 22qter;22pter>22q11::11q23>11qter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q23 t(11;22)11q23 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(11;22)22q11 |
| Remarks |
Clinically normal |
| Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE, AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation. Am J Hum Genet68(1):1-13 2001 |
| PubMed ID: 11095996 |
| |
| Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 1999 |
| PubMed ID: 10577914 |
| |
| Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M,
Cannizzaro L, Shanske A, Morrow BE, Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a
1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet64(3):747-58 1999 |
| PubMed ID: 10053009 |
| |
| Rosen N, Bolen JB, Schwartz AM, Cohen P, DeSeau V, Israel MA, Analysis of pp60c-src protein kinase activity in human tumor cell lines and tissues. J Biol Chem261:13754-9 1986 |
| PubMed ID: 3093483 |
|
|