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An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Huang, Wei; Xu, Miao; Li, Rong; Baskfield, Amanda; Kouznetsova, Jennifer; Beers, Jeanette; Zou, Jizhong; Liu, Chengyu; Zheng, Wei.
Afiliación
  • Huang W; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wei.huang@nih.gov.
  • Xu M; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: miao.xu@nih.gov.
  • Li R; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: rong.li@nih.gov.
  • Baskfield A; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: amanda.baskfield@nih.gov.
  • Kouznetsova J; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: jennifer.kouznetsova@nih.gov.
  • Beers J; iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: jeanette.beers@nih.gov.
  • Zou J; iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: jizhong.zou@nih.gov.
  • Liu C; Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: Chengyu.liu@nih.gov.
  • Zheng W; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wei.zheng@nih.gov.
Stem Cell Res ; 37: 101427, 2019 05.
Article en En | MEDLINE | ID: mdl-30933722
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acetilglucosaminidasa / Teratoma / Mucopolisacaridosis III / Células Madre Pluripotentes Inducidas / Homocigoto / Mutación Límite: Animals / Female / Humans / Infant Idioma: En Revista: Stem Cell Res Año: 2019 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acetilglucosaminidasa / Teratoma / Mucopolisacaridosis III / Células Madre Pluripotentes Inducidas / Homocigoto / Mutación Límite: Animals / Female / Humans / Infant Idioma: En Revista: Stem Cell Res Año: 2019 Tipo del documento: Article