GM08882

GM08882 LCL from B-Lymphocyte

Description:

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
SUPEROXIDE DISMUTASE 1; SOD1

Affected:

Yes

Sex:

Female

Age:

55 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

paternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected with upper and lower motor neuron involvement; mother is affected; mother of GM08885; donor subject has one allele which has an A>G transition in exon 4 of the SOD1 gene resulting in the substitution of glycine for glutamic acid at codon 100 [Glu100Gly (E100G)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

SOD1

Chromosomal Location

21q22.11

Allelic Variant 1

147450.0009; AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL

Identified Mutation

GLU100GLY; This mutation of the SOD1 gene was identified by Rosen et al. (1993) in a family with amyotrophic lateral sclerosis. Winterbourn et al. (1995) demonstrated decreased thermal stability of red cell superoxide dismutase carrying the glu100-to-gly mutation for a family with amyotrophic lateral sclerosis. Extracts containing the mutant had an average 68% of normal SOD activity. On heating at 65 degrees centigrade, these extracts lost activity at twice the rate of extracts containing only normal enzyme.