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Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1.
Brooks, Brianna M; Pradhan, Manisha; Cheng, Yu-Shan; Gorshkov, Kirill; Farkhondeh, Atena; Chen, Catherine Z; Beers, Jeanette; Liu, Chengyu; Baumgaertel, Karsten; Rodems, Steven; Zheng, Wei.
Afiliação
  • Brooks BM; 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.
  • Cheng YS; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Gorshkov K; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Farkhondeh A; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Chen CZ; 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.
  • Liu C; Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Baumgaertel K; Travere Therapeutics, San Diego, CA, USA.
  • Rodems S; Travere Therapeutics, 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 ; 54: 102447, 2021 07.
Article em En | MEDLINE | ID: mdl-34198154
ABSTRACT
Alagille syndrome (ALGS) is a rare autosomal dominant disorder caused by disruption of the Notch signaling pathway due to mutations in either JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). Loss of this signaling interferes with the development of many organs, but especially the liver. A human induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Alagille / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Alagille / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article