GM23505
LCL from B-Lymphocyte
Description:
GLYCOGEN STORAGE DISEASE V
GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
BRITISH
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
PYGM |
| Chromosomal Location |
11q13 |
| Allelic Variant 1 |
608455.0001; MCARDLE DISEASE |
| Identified Mutation |
ARG49TER; In a study of 40 patients with McArdle disease, Tsujino et al. (1993) identified 3 distinct point mutations. The most common mutation, present in 18 patients who were homozygous, consisted of substitution of thymine for cytosine at codon 49 in exon 1, changing an encoded arginine to a stop codon. The second mutation was substitution of adenine for guanine at codon 204 in exon 5, changing glycine to serine. The third was the substitution of cytosine for adenine at codon 542 in exon 14, changing lysine to threonine. Six of the 40 patients had different mutations in the 2 alleles (i.e., were compound heterozygotes), and 11 were presumed to be compound heterozygotes for a known mutation and an unknown one. Only 5 patients had none of the 3 mutations. In 1 remarkable family, all 3 mutations were present in various combinations in 5 members of the family in which transmission appeared to be autosomal dominant. Thus, this was pseudodominance due to mating of a compound heterozygote with a person carrying a third mutation. Three children were all compound heterozygotes, but compound heterozygotes of 2 different compositions. The mother was a 204/49 compound; the father was a 542 carrier; 2 children were 542/204 compounds and 1 was a 542/49 compound. Presumed autosomal dominant inheritance was reported by Chui and Munsat (1976), and the occurrence of McArdle disease in 2 generations was attributed to manifestations in some heterozygotes by Schmidt et al. (1987) and Papadimitriou et al. (1990). Bartram et al. (1993) found the arg49-to-ter mutation in all 16 McArdle disease patients studied; 10 of the 16 were homozygous, and the remainder were heterozygous, with the other allele awaiting identification.
|
| |
| Gene |
PYGM |
| Chromosomal Location |
11q13 |
| Allelic Variant 2 |
608455.0001; MCARDLE DISEASE |
| Identified Mutation |
ARG49TER; In a study of 40 patients with McArdle disease, Tsujino et al. (1993) identified 3 distinct point mutations. The most common mutation, present in 18 patients who were homozygous, consisted of substitution of thymine for cytosine at codon 49 in exon 1, changing an encoded arginine to a stop codon. The second mutation was substitution of adenine for guanine at codon 204 in exon 5, changing glycine to serine. The third was the substitution of cytosine for adenine at codon 542 in exon 14, changing lysine to threonine. Six of the 40 patients had different mutations in the 2 alleles (i.e., were compound heterozygotes), and 11 were presumed to be compound heterozygotes for a known mutation and an unknown one. Only 5 patients had none of the 3 mutations. In 1 remarkable family, all 3 mutations were present in various combinations in 5 members of the family in which transmission appeared to be autosomal dominant. Thus, this was pseudodominance due to mating of a compound heterozygote with a person carrying a third mutation. Three children were all compound heterozygotes, but compound heterozygotes of 2 different compositions. The mother was a 204/49 compound; the father was a 542 carrier; 2 children were 542/204 compounds and 1 was a 542/49 compound. Presumed autosomal dominant inheritance was reported by Chui and Munsat (1976), and the occurrence of McArdle disease in 2 generations was attributed to manifestations in some heterozygotes by Schmidt et al. (1987) and Papadimitriou et al. (1990). Bartram et al. (1993) found the arg49-to-ter mutation in all 16 McArdle disease patients studied; 10 of the 16 were homozygous, and the remainder were heterozygous, with the other allele awaiting identification.
|
| Remarks |
Clinically affected; no family history; onset of symptoms at age 4 years; exercise intolerance; rhabdomyolysis; no myophosphorylase; excess glygogen; donor subject is homozygous for a C>T mutation at codon 49 in exon 1 of the PYGM gene resulting in an encoded arginine (CGA) to a stop codon (TGA) |
| Split Ratio |
1:5 |
| 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 |
- |
|