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An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
Yang, Shu; Cheng, Yu-Shan; Li, Rong; Pradhan, Manisha; Hong, Junjie; Beers, Jeanette; Zou, Jizhong; Liu, Chengyu; Might, Matt; Rodems, Steven; Zheng, Wei.
Afiliação
  • Yang S; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Cheng YS; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Li R; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Pradhan M; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Hong J; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Beers J; iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Zou J; iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Liu C; Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Might M; University of Alabama at Birmingham, Birmingham, AL, USA.
  • Rodems S; Retrophin, Inc., San Diego, CA, USA.
  • Zheng W; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.
Stem Cell Res ; 39: 101496, 2019 08.
Article em En | MEDLINE | ID: mdl-31326749
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Células-Tronco Pluripotentes Induzidas Limite: Adolescent / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Células-Tronco Pluripotentes Induzidas Limite: Adolescent / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article