GM25234
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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Ethnicity
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French-Canadian
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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 |
; Hyperglycerolemia |
| Identified Mutation |
N288D; GLYCEROL KINASE DEFICIENCY; GKD |
| Remarks |
Asymptomatic; diagnosed with pseudo-hypertriglyceridemia at 34 years of age; hyperglycerolemia; glyceroluria; history of myocardial infarction at 38 years of age; LCLs showed 5.53% of normal GK activity; missesense mutation of GK gene: 862A>G, N288D; refer to subject 201805-1 in publication by Dipple et al (2001, PMID 11479736). |
| Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER, Glycerol kinase deficiency: evidence for complexity in a single gene disorder Human genetics109:55-62 2001 |
| PubMed ID: 11479736 |
| Split Ratio |
1:4 |
| 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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