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Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene.
Hatim, Omer; Pavlinov, Ivan; Xu, Miao; Linask, Kaari; Beers, Jeanette; Liu, Chengyu; Baumgärtel, Karsten; Gilbert, Melissa; Spinner, Nancy; Chen, Catherine; Zou, Jizhong; Zheng, Wei.
Afiliação
  • Hatim O; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Pavlinov I; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Xu M; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Linask K; iPSC Core, National Heart, Lung and Blood Institute, 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.
  • Baumgärtel K; Travere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA.
  • Gilbert M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Spinner N; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Chen C; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Zou J; iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, 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 ; 73: 103231, 2023 12.
Article em En | MEDLINE | ID: mdl-37890331
ABSTRACT
Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system clinical presentation, variable expressivity, and prenatal onset for some of the features. The generation of this iPSC line (TRNDi032-A) carrying a heterozygous mutation, p.Cys682Leufs*7 (c.2044dup), in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Síndrome de Alagille / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Síndrome de Alagille / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos