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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.
Tonin, Rodolfo; Feo, Federica; Falliano, Silvia; Ferri, Lorenzo; Giunti, Laura; Calamai, Martino; Procopio, Elena; Mari, Francesco; Conti, Valerio; Fanelli, Ilaria; Bambi, Franco; Guerrini, Renzo; Morrone, Amelia.
Afiliação
  • Tonin R; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy. Electronic address: rodolfo.tonin@meyer.it.
  • Feo F; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Falliano S; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Ferri L; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Giunti L; Neuro-Oncology Unit Department of Pediatric Oncology, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Calamai M; European Laboratory for Non-linear Spectroscopy (LENS), University of Florence, Florence, Italy.
  • Procopio E; Metabolic and Neuromuscular Unit- Department of Neurosciences, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Mari F; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Conti V; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Fanelli I; Cell Factory Meyer, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Bambi F; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
  • Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
  • Morrone A; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy. Electronic address: amelia.morrone@mey
Stem Cell Res ; 73: 103235, 2023 Dec.
Article em En | MEDLINE | ID: mdl-38323760
ABSTRACT
Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent stem cell (hiPSC) line from a 15-year-old male patient with CDG. The patient carried three variants, one (c.122G > A; p.Arg41Gln) inherited from his father and two (c.445 T > G; p.Leu149Arg and the novel c.980C > G; p.Thr327Arg) inherited from his mother in the ALG8 gene (OMIM #608103). The generated hiPSC line shows a normal karyotype, expresses pluripotency markers, and is able to differentiate into the three germ layers.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Células-Tronco Pluripotentes Induzidas Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Células-Tronco Pluripotentes Induzidas Idioma: En Ano de publicação: 2023 Tipo de documento: Article