Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector

Year: 2024

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

Autors Affiliation: Meyer Childrens Hosp IRCCS, Neurosci Dept, 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; ASL Bari, San Paolo Hosp, Children Epilepsy & EEG Ctr, Bari, Italy; Meyer Childrens Hosp IRCCS, Cell Factory Meyer, Florence, Italy; Univ Florence, Dept Neurosci Pharmacol & Child Hlth, Florence, Italy.

Abstract: GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early clinical features of GM3SD include infantile onset of severe irritability and feeding difficulties, early intractable seizures, growth failure, hypotonia, sensorineural hearing impairment. We describe the generation and characterization the human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a 13-year-old girl with GM3 synthase deficiency resulted compound heterozygous for two new variants in the ST3GAL5 gene, c.1166A > G (p.His389Arg) and the c.1024G > A (p.Gly342Ser). 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: 77      Pages from: 103431-1  to: 103431-4

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) . This study was supported in part by funds from the ’Current Research Annual Funding ’ of the Italian Ministry of Health.
KeyWords: Adolescent; Cell Differentiation; Cell Line; Female; Genetic Vectors; Humans; Induced Pluripotent Stem Cells; RNA; Sialyltransferases
DOI: 10.1016/j.scr.2024.103431