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

Rodolfo Tonin; Federica Feo; Silvia Falliano; Lorenzo Ferri; Laura Giunti; Martino Calamai; Elena Procopio; Francesco Mari; Valerio Conti; Ilaria Fanelli; Franco Bambi; Renzo Guerrini; Amelia Morrone

Stem Cell Research (Dec 2023)

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

Rodolfo Tonin,
Federica Feo,
Silvia Falliano,
Lorenzo Ferri,
Laura Giunti,
Martino Calamai,
Elena Procopio,
Francesco Mari,
Valerio Conti,
Ilaria Fanelli,
Franco Bambi,
Renzo Guerrini,
Amelia Morrone

Affiliations

Rodolfo Tonin: Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy
Federica Feo: Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy
Silvia Falliano: Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy
Lorenzo Ferri: Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy
Laura Giunti: Neuro-Oncology Unit Department of Pediatric Oncology, Meyer Children's Hospital IRCCS, Florence, Italy
Martino Calamai: European Laboratory for Non-linear Spectroscopy (LENS), University of Florence, Florence, Italy
Elena Procopio: Metabolic and Neuromuscular Unit- Department of Neurosciences, Meyer Children’s Hospital IRCCS, Florence, Italy
Francesco Mari: Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy
Valerio Conti: Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy
Ilaria Fanelli: Cell Factory Meyer, Meyer Children's Hospital IRCCS, Florence, Italy
Franco Bambi: Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
Renzo Guerrini: Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
Amelia Morrone: 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; Corresponding author at: Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

Journal volume & issue: Vol. 73
p. 103235

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal