Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).

Wu, Jianbo; Hunt, Samuel D; Matthias, Nadine; Servián-Morilla, Emilia; Lo, Jonathan; Jafar-Nejad, Hamed; Paradas, Carmen; Darabi, Radbod

Wu, Jianbo; Hunt, Samuel D; Matthias, Nadine; Servián-Morilla, Emilia; Lo, Jonathan; Jafar-Nejad, Hamed; Paradas, Carmen; Darabi, Radbod.

Afiliação

Wu J; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Hunt SD; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Matthias N; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Servián-Morilla E; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla 41013, Spain.
Lo J; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Jafar-Nejad H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Paradas C; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla 41013, Spain.
Darabi R; Center for Stem Cell and Regenerative Medicine (CSCRM), The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM), The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address: radbod.darabi@uth.tmc.edu.

Stem Cell Res ; 24: 102-105, 2017 10.

Article em En | MEDLINE | ID: mdl-29034878

Assuntos

Glucosiltransferases/genética; Células-Tronco Pluripotentes Induzidas/metabolismo; Distrofia Muscular do Cíngulo dos Membros/genética; Adulto; Linhagem Celular; Glucosiltransferases/metabolismo; Humanos; Masculino; Distrofia Muscular do Cíngulo dos Membros/metabolismo; Distrofia Muscular do Cíngulo dos Membros/patologia; Mutação; Mutação de Sentido Incorreto

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Células-Tronco Pluripotentes Induzidas / Glucosiltransferases Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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