Article
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.
Stem cell research - 1 Dec 2023
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
Abstract excerpt
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...
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