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Table 1 Pompe disease fibroblast cell lines, phenotype, genotype and residual GAA activity

From: Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

Cell line Phenotype Genotype GAA relative activity
   DNA mutation Protein mutation  
1 severe c.1101G>A/c.1927G>A p.W367X/p.G643R 0.3%
2 intermediate c.1655T>C/c.1655T>C p.L552P/p.L552P 1.2%
3 intermediate c.1655T>C/c.-35C>A p.L552P/abn. splicing 1.6%
4 juvenile c.1645G>C/c.692+1G>C p.G549R/abn. splicing 3.2%
5 juvenile c.-45T>G/unknown abn. splicing/unknown 5.2%
  1. GAA relative activity is expressed as percentage of normal (100%). Normal range of GAA activity in fibroblasts 58.5 +/- 28.1