An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene

Wei Huang; Miao Xu; Rong Li; Amanda Baskfield; Jennifer Kouznetsova; Jeanette Beers; Jizhong Zou; Chengyu Liu; Wei Zheng

doi:10.1016/j.scr.2019.101427

An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene

Stem Cell Res. 2019 May:37:101427. doi: 10.1016/j.scr.2019.101427. Epub 2019 Mar 23.

Authors

Wei Huang¹, Miao Xu², Rong Li³, Amanda Baskfield⁴, Jennifer Kouznetsova⁵, Jeanette Beers⁶, Jizhong Zou⁷, Chengyu Liu⁸, Wei Zheng⁹

Affiliations

¹ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
² National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
³ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
⁴ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
⁵ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
⁶ iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
⁷ iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
⁸ Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
⁹ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].

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.

Published by Elsevier B.V.

Publication types

Research Support, N.I.H., Intramural

MeSH terms

Acetylglucosaminidase / genetics*
Animals
Cells, Cultured
Female
Fibroblasts / metabolism
Fibroblasts / pathology
Homozygote*
Humans
Induced Pluripotent Stem Cells / metabolism
Induced Pluripotent Stem Cells / pathology*
Infant
Mice
Mice, Inbred NOD
Mice, SCID
Mucopolysaccharidosis III / genetics*
Mucopolysaccharidosis III / pathology*
Mutation*
Phenotype
Teratoma / etiology*
Teratoma / pathology

Substances

alpha-N-acetyl-D-glucosaminidase
Acetylglucosaminidase

Abstract

Publication types

MeSH terms

Substances

Grants and funding