Abstract
NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.
Published by Elsevier B.V.
Publication types
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Cells, Cultured
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Congenital Disorders of Glycosylation / genetics*
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Flow Cytometry
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Homozygote
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Humans
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Induced Pluripotent Stem Cells / cytology*
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Induced Pluripotent Stem Cells / metabolism*
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Karyotyping
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Microsatellite Repeats / genetics
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Mutation
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Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / deficiency*
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Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / genetics
Substances
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Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase