Abstract
Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a c.2560C > T (p.R854X) mutation in exon 18 of the GAA gene. This human iPSC line provides a useful resource for disease modeling and drug discovery.
Published by Elsevier B.V.
Publication types
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Research Support, N.I.H., Intramural
MeSH terms
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Age of Onset
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Animals
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Cell Differentiation*
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Cells, Cultured
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Cellular Reprogramming
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Fibroblasts / metabolism
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Fibroblasts / pathology*
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Glycogen Storage Disease Type II / genetics*
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Glycogen Storage Disease Type II / pathology
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Homozygote
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Humans
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Induced Pluripotent Stem Cells / metabolism
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Induced Pluripotent Stem Cells / pathology*
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Infant
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Male
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Mice
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Mice, Inbred NOD
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Mice, SCID
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Mutation*
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Phenotype
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Teratoma / etiology*
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Teratoma / pathology
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alpha-Glucosidases / genetics*
Substances
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GAA protein, human
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alpha-Glucosidases