GM25144
LCL from B-Lymphocyte
Description:
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED 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
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XY,dup(15)(q11q13.3).arr[hg19] 5p13.2p13.1(38384642-38515491)x3,11p15.4p15.3(6023817-11869281)x2˜3,11p15.3p14.3(12097407-23128730) x2˜3,15q11.1q11.2(20284053-22334150)x4,15q11.2q13.1(22350984-28927180)x3,15q13.2q13.3(30501812-32876972)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; seizures; dysmorphic facial features; fine motor delay; speech delay; test methods: microarray, SNP; subject is adopted; mental health problems on maternal and paternal side; sister may be affected. |
| Split Ratio |
1:6 |
| 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 |
- |
|
|