GM25198
LCL from B-Lymphocyte
Description:
HYPERGLYCEROLEMIA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
|
Cell Type
|
B-Lymphocyte
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
|
ISCN
|
46,XY,del(17)(p11.2)[3]/46,XY[21].arr[hg19]17p11.2(18950854-19093548)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
GK |
| Chromosomal Location |
Xp21.3-p21.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
E453K, G->A in 1357 |
| Remarks |
Clinically affected with infantile type; symptom onset and diagnosis at less than two months of age; mutation of GK gene (G>A in 1357 resulting in E453K) confirmed by dot blot. |
| Split Ratio |
1:7 |
| 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 |
- |
|
|