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

Year: 2023

Authors: Tonin R., Feo F., Falliano S., Ferri L., Giunti L., Calamai M., Procopio E., Mari F., Conti V., Fanelli I., Bambi F., Guerrini R., Morrone A.

Autors Affiliation: Meyer Childrens Hosp IRCCS, Neurosci Dept, Lab Mol Biol Neurometab Dis, Florence, Italy; Meyer Childrens Hosp IRCCS, Dept Pediat Oncol, Neurooncol Unit, Florence, Italy; Univ Florence, European Lab Nonlinear Spect LENS, Florence, Italy; Meyer Childrens Hosp IRCCS, Dept Neurosci, Metab & Neuromuscular Unit, Florence, Italy; Meyer Childrens Hosp IRCCS, Neurosci Dept, Florence, Italy; Meyer Childrens Hosp IRCCS, Cell Factory Meyer, Florence, Italy; Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth NEUROF, Florence, Italy.

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.

Journal/Review: STEM CELL RESEARCH

Volume: 73      Pages from: 103235-1  to: 103235-4

More Information: We gratefully thank the AMMeC (Associazione Malattie Metaboliche e Congenite, Italia) for their continuing support. Grant number and sources of support: Bando Regione Toscana 2018 (Project ’Lysolate’) (to AM) and the Human Brain Optical Mapping project by Fondazione Cassa di Risparmio di Firenze (to RG) .
KeyWords: Adolescent; Congenital disorder of glycosylation type 1H; Congenital Disorders of Glycosylation; Glucosyltransferases; Glycosylation; Humans; Induced Pluripotent Stem Cells; Male; Mutation
DOI: 10.1016/j.scr.2023.103235