GM16826
LCL from B-Lymphocyte
Description:
ALEXANDER DISEASE
GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
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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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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GFAP |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
137780.0005; ALEXANDER DISEASE |
| Identified Mutation |
ARG79CYS; In a patient with Alexander disease (203450) with onset at 3 months and death at 14 years, Brenner et al. [Nature Genet. 27: 117-120 (2001)] identified a C-to-T transition at nucleotide 249 (C249T) of the GFAP gene, leading to an arg79-to-cys amino acid substitution. Brenner et al. [Nature Genet. 27: 117-120 (2001)] found the same mutation in a patient with Alexander disease still living at the age of 7 years. |
| Remarks |
Line ALX-3; at age two months was hypotonic and developed seizures; large head (53cm circumference); at 13 months had shunt placed for hydrocephalus and biopsy confirmed diagnosis; significant developmental delay; MRI showed abnormal signal white matter and basal ganglia; at age 8, in wheelchair and quite retarded; donor subject is heterozygous for a C-to-T transition at nucleotide 249 (249C>T) of the GFAP gene, which results in an arg79-to-cys amino acid substitution [ARG79CYS (R79C)]. |
| Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A, Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet27(1):117-20 2001 |
| PubMed ID: 11138011 |
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| Messing A, Goldman JE, Johnson AB, Brenner M, Alexander disease: new insights from genetics. J Neuropathol Exp Neurol60(6):563-73 2001 |
| PubMed ID: 11398833 |
| Split Ratio |
1:4 |
| 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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