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Cell Line Summary

ID #:01434.751

SOD1 (G93A)

Catalog Description Amyotrophic Lateral Sclerosis
Product Group Disease
Product Family Neural
Disease Group Neurodegenerative
Collection CDI
Starting Material Blood
Line Origination Model
Phenotype ALS
Phenotype Data (Aliases) Lou Gehrig’s Disease, Charcott Disease, ALS-1
Genotype SOD1 (G93A) c. 281G>C
Genotype Remarks In some references G94A, Glycine to Alanine point mutation at amino acid position 93 (94) in the Superoxide Dismutase 1 gene
Zygosity Heterozygous
Gender Female
Age unknown
Age at Onset unknown
Race Caucasian
Ethnicity unknown
OMIM Disease 105400
OMIM Gene 147450.0008
dbSNP ID Reference rs121912438
Remarks ALS is a neurodegenerative disorder where motor neurons in the brain, brainstem and spinal cord degenerate and die, eventually causing fatal paralysis. The G93A mutation results in a gain-of-function change to the SOD1 enzyme