GM13291
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
|
Black/African American
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
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 |
|
alpha-glucosidase |
According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 0% activity. |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 1 |
606800.0014; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
1-BP DEL, 525T; In a girl with the juvenile form of Pompe disease (232300), Hermans et al. (1994) identified compound heterozygosity for 2 mutations in the GAA gene: P545L (606800.0013) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 2 |
; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
1195-8G>A |
Remarks |
Clinically affected; muscle weakness of limbs; absent acid-alpha-1,4 glucosidase activity; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 525 in exon 2 of the GAA gene (c.525delT) resulting in a frameshift and premature termination of the protein [Glu176fsX45); a second allele has a G>A transition at nucleotide 1195-8 (c.1195-8G>A) causing aberrant splicing; 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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