GM28229
iPSC from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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Black/African American
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Country of Origin
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USA
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY[19]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
606800.0015; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0015; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients. |
| Remarks |
Cell line ID: TRNDi007-B (HT521B) from parent fibroblast GM00248 - PMID 31026687; infantile onset; deficient acid-alpha-1,4 glucosidase (0.27%); no detectable levels of GAA mRNA or protein; passage 3 at CCR; donor subject is homozygous for a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 [Arg854Ter (R854X)]; cross-reactive immunological material (CRIM)-negative status confirmed by Western blot and GAA sequencing analyses (homozygous for p.Arg854X)(PMID:24044919); Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| Cheng YS, Li R, Baskfield A, Beers J, Zou J, Liu C, Zheng W, A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying pR854X mutation in the GAA gene Stem cell research37:101435 2019 |
| PubMed ID: 31026687 |
| Gene Cards |
GAA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004558 alpha-glucosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0005980 glycogen catabolism |
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GO:0006091 energy pathways |
| NCBI Gene |
Gene ID:2548 |
| NCBI GTR |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| OMIM |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| Omim Description |
ACID MALTASE DEFICIENCY; AMD |
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ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED |
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CARDIAC FORM OF GENERALIZED GLYCOGENOSIS |
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CARDIOMEGALIA GLYCOGENICA DIFFUSA |
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GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY |
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GLYCOGEN STORAGE DISEASE II |
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POMPE DISEASE |
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