GM20073
LCL from B-Lymphocyte
Description:
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED)
EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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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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White
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Family Member
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1
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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 |
EIF2B2 |
| Chromosomal Location |
14q24 |
| Allelic Variant 1 |
606454.0001; LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER |
| Identified Mutation |
GLU213GLY; In 2 distantly related individuals with VWM (603896), Leegwater et al. (2001) found homozygosity for an glu213-to-gly (E213G) mutation in the EIF2B2 gene. Heterozygosity for the same mutation was found in a patient in the United State who shared a part of the haplotype on 14q24 with the homozygous patients observed in Europe, suggesting a familial relationship. The second mutation predicted a V316D amino acid substitution (606454.0002). The Dutch patients with VWM due to the mutation in EIF2B2 came from the southern part of the Netherlands rather than the eastern part, where the patients with the T91A mutation in the EIF2B5 gene (603945.0001) lived. |
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| Gene |
EIF2B2 |
| Chromosomal Location |
14q24 |
| Allelic Variant 2 |
E304X; LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER |
| Identified Mutation |
GLU304TER |
| Remarks |
Clinically affected; walked at 11 months; talked at 12 months; toilet trained at 22 months; balance and walking difficulty noted at 3 years; progressive course; dysarthria; tremor; rapid horizontal tremor; temporarily lost ability to walk at age 3 1/2 following viral flu; ataxic gait; cerebellar tremor limiting motor functions; scoliosis; needs magnification but vision is relatively stable; variable regression in functional status; no history of dysphagia; diffuse cavitation of white matter on MRI; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 638 of the EIF2B2 gene [638A>G] resulting in a substitution of glycine for glutamic acid at codon 213 [Glu213Gly(E213G)] and a second allele has a G>C transversion at nucleotide 910 of the EIF2B2 gene [910G>C] resulting in a substitution of a termination codon for glutamic acid at codon 304[Glu304Ter(E304X)]; affected sibling is GM20074. |
| Moon SL1, Parker R2,3., Analysis of eIF2B bodies and their relationships with stress granules and P-bodies Scientific Reports:8 2018 |
| PubMed ID: 30115954 |
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| Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O, The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology62(9):1509-17 2004 |
| PubMed ID: 15136673 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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