RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother.


Journal

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

Informations de publication

Date de publication:
10 2022
Historique:
received: 26 08 2022
accepted: 14 09 2022
pubmed: 23 9 2022
medline: 26 10 2022
entrez: 22 9 2022
Statut: ppublish

Résumé

We used a non-integrative self-replicating RNA vector to establish four iPSC lines: two iPSC lines from a young male carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 (present at virtual homoplasmic level), and two iPSC lines from his healthy mother (carrying the mutation in only about 4 % of mtDNA copies). All iPSC lines exhibited pluripotency characteristics, were capable to give rise to cells of the three germ layers in vitro, and presented a normal karyotype. The derived iPSC lines retained the MT-ATP6 mutation at levels similar to those observed in the parental fibroblasts.

Identifiants

pubmed: 36137325
pii: S1873-5061(22)00269-0
doi: 10.1016/j.scr.2022.102920
pii:
doi:

Substances chimiques

RNA 63231-63-0
DNA, Mitochondrial 0
MT-ATP6 protein, human 0
Mitochondrial Proton-Translocating ATPases EC 3.6.3.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

102920

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

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

Tabea Steiner (T)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

Annika Zink (A)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

Marie-Therese Henke (MT)

Charité Universitätsmedizin, Berlin, Germany.

Giulia Cecchetto (G)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

Miriam Buenning (M)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

Andrea Rossi (A)

Genome Engineering and Model Development Lab (GEMD), IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf 40225, Germany.

Markus Schuelke (M)

Charité Universitätsmedizin, Berlin, Germany.

Alessandro Prigione (A)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. Electronic address: alessandro.prigione@hhu.de.

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Classifications MeSH