GM25168
LCL from B-Lymphocyte
Description:
HYPERGLYCEROLEMIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
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Cell Type
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B-Lymphocyte
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Transformant
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Epstein-Barr Virus
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|
Sample Source
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LCL from B-Lymphocyte
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Race
|
Unknown
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Country of Origin
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USA
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Family History
|
N
|
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Relation to Proband
|
proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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ISCN
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46,XY.arr[hg19](1-22)x2,(XY)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 |
IVS4 -1G>A Es del. |
| Remarks |
Clinically affected with infantile form; hypoglycemia; elevated bilirubin, lipids, transaminases; megaloblastic anemia; Dot blot 02-436 and 02-437 shows donor subject to be hemizygous for GK gene mutation IVS4-1G>A, Es del. |
| 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 |
- |
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