GM14407
LCL from B-Lymphocyte
Description:
GLYCOGEN STORAGE DISEASE II
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Biochemical characterization - other
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 1 |
L291F; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
LEU291PHE |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 2 |
W481R; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
TRP481ARG |
Remarks |
Clinically affected; moderate myopathy; mild cardiomyopathy; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 871 of the GAA gene (c.871C>T) resulting in the substitution of phenylalanine for leucine at codon 291 [Leu291Phe (L291F)]; the second allele has a T>C transition at nucleotide 1441 in exon 10 (c.1441T>C) resulting in the substitution of arginine for tryptophan at codon 481 [Trp481Arg (W481R)]; cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919). |
Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]: 2013 |
PubMed ID: 24044919 |
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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