Abstract
Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has homozygous mutations of G>A transversion at nucleotide 457 of the NAGLU gene (457G>A), resulting in the substitution of lysine for glutamic acid at codon 153 (Glu153Lys). This iPSC line allows for the study of disease phenotypes and pathophysiology as well as disease modeling in human cells.
Highlights
Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase
Dermal fibroblasts Clonal Integration-free Sendai viral vectors NO N/A Mucopolysaccharidosis type III B (MPS IIIB) NAGLU Glu153Lys N/A N/A N/A 2018 N/A NIGMS Informed Consent Form was obtained from patient at time of sample submission
This TRNDi006-A induced pluripotent stem cell (iPSC) line is a valuable resource for elucidating the disease phenotype and pathophysiology of MPS IIIB
Summary
Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Dermal fibroblasts Clonal Integration-free Sendai viral vectors NO N/A Mucopolysaccharidosis type III B (MPS IIIB) NAGLU Glu153Lys N/A N/A N/A 2018 N/A NIGMS Informed Consent Form was obtained from patient at time of sample submission.
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