GM25163
LCL from B-Lymphocyte
Description:
HYPERGLYCEROLEMIA
GLYCEROL KINASE; GK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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
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Unknown
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
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| Gene |
GK |
| Chromosomal Location |
Xp21.3-p21.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
IVS3 +1 G>A, del exon 3 |
| Remarks |
Asymptomatic; pseudo-hypertriglyceridemia; nephrolithiasis; glaucoma; 6.8% of normal GK activity in LCL; mutation of GK gene (IVS3+ 1G>A) resulting in deletion of exon 3 (107 bp) and a subsequent frameshift predicting a premature stop codon after 79 aa (confirmed by PCR and Southern Blot analysis); refer to subject 020518-1 in publication by Zhang et al (2005, PMID 16549535). |
| Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM, Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA Pediatric research59:590-2 2006 |
| PubMed ID: 16549535 |
| Split Ratio |
1:2 |
| 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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