Description:
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,del(13)(q31).arr 13q31.1q34(80919937-114126487)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q22>13qter |
| Remarks |
13q- syndrome features |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Barr FG, Sellinger B, Emanuel BS, Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. Genomics11:941-7 1991 |
| PubMed ID: 1783402 |
| |
| Lee EY, Lee WH, Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Proc Natl Acad Sci U S A83:6337-41 1986 |
| PubMed ID: 3462698 |
| |
| Cavenee W, Leach R, Mohandas T, Pearson P, White R, Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet36:10-24 1984 |
| PubMed ID: 6320640 |
|
|