GM50115
LCL from B-Lymphocyte
Description:
DUPLICATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,dup(18)(q12.1q22).ish dup(18)(q12.1q22)(wcp18+).arr 18q12.1q22.3(25158928-25472423-69103053)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Cytogenetics |
Chromosome 18: DUPLICATION Aneuploid Segment (+)18q12>18q22 |
| Remarks |
Failure to thrive when young; growth retardation; profound mental retardation; at age 16 years developmental level of age 2-3 months; history of seizures; microcephaly; flat occiput; broad nasal bridge; short nose with upturned tip; broad mouth with open-mouth habitus; high palate; marked hypotonia |
| 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 |
| |
| Mewar R, Kline AD, Harrison W, Rojas K, Greenberg F, Overhauser J, Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am J Hum Genet53(6):1269-78 1993 |
| PubMed ID: 8250043 |
| View |
FISH Whole chromosome 18 painting probe green, FITC |
|
karyotype Whole chromosome 18 painting probe green, FITC |
|
karyotype Whole chromosome 18 painting probe green, FITC |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
|
|