GM25195
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
|
|
Race
|
Asian, Other
|
|
Country of Origin
|
USA
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
|
ISCN
|
46,XY.arr[hg19]Xp21.2(30023076-30359066)x0,Xp21.2(30366016-30535381)x0,Xp21.2(30545026-30904584)x0
|
|
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 |
Centromeric breakpoint within marker region DMC cDNA 11Hc & DXS268; |
| Identified Mutation |
Deletion between DXS28 & DXS727 |
| Remarks |
Clinically affected with infantile type - complex glycerol kinase deficiency; symptom onset and diagnosis from birth; subject deceased at 4 years of age; mutations of GK gene include deletion between DXS28 and DXS727, and centromeric breakpoint within marker region DMC cDNA 11Hc and DXS268(confirmed by PCR and Southern Blot analysis); siblings were carriers (all deceased). |
| 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 |
- |
|
|