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.

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 06 08 2023
revised: 19 09 2023
accepted: 18 10 2023
medline: 7 2 2024
pubmed: 7 2 2024
entrez: 7 2 2024
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.scr.2023.103235 PMID: 38323760
pubmed: 38323760
pii: S1873-5061(23)00221-0
doi: 10.1016/j.scr.2023.103235
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

103235

Informations de copyright

Copyright © 2023. Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Rodolfo Tonin (R)

Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy. Electronic address: rodolfo.tonin@meyer.it.

Federica Feo (F)

Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

Silvia Falliano (S)

Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

Lorenzo Ferri (L)

Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

Laura Giunti (L)

Neuro-Oncology Unit Department of Pediatric Oncology, Meyer Children's Hospital IRCCS, Florence, Italy.

Martino Calamai (M)

European Laboratory for Non-linear Spectroscopy (LENS), University of Florence, Florence, Italy.

Elena Procopio (E)

Metabolic and Neuromuscular Unit- Department of Neurosciences, Meyer Children's Hospital IRCCS, Florence, Italy.

Francesco Mari (F)

Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

Valerio Conti (V)

Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.

Ilaria Fanelli (I)

Cell Factory Meyer, Meyer Children's Hospital IRCCS, Florence, Italy.

Franco Bambi (F)

Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Renzo 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.

Amelia 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@meyer.it.

Classifications MeSH