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Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene.
Zeng, Wenshu; Kong, Xiaohui; Alamana, Christina; Liu, Yu; Guzman, Jessica; Pang, Paul D; Day, John W; Wu, Joseph C.
Afiliação
  • Zeng W; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
  • Kong X; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
  • Alamana C; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
  • Liu Y; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
  • Guzman J; Department of Neurology, Stanford University, Stanford, CA 94305, USA.
  • Pang PD; Greenstone Biosciences, Palo Alto, CA 94304, USA.
  • Day JW; Department of Neurology, Stanford University, Stanford, CA 94305, USA.
  • Wu JC; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA; Greenstone Biosciences, Palo Alto, CA 94304, USA. Electronic address: joewu@stanford.edu.
Stem Cell Res ; 69: 103095, 2023 06.
Article em En | MEDLINE | ID: mdl-37087898
ABSTRACT
Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death. Here we generated two iPSC lines from two SMA type I patients with homozygous SMN1 mutations and validated the pluripotency and the ability to differentiate into three germ layers. The iPSC lines can be applied to generate skeletal muscles to model muscle atrophy of SMA that persists after treatment of motor neurons and will serve as a complementary platform for drug screening in vitro.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / 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: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / 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