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

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...

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Main Authors: Tabea Steiner, Annika Zink, Marie-Therese Henke, Giulia Cecchetto, Miriam Buenning, Andrea Rossi, Markus Schuelke, Alessandro Prigione
Format: Article
Language:English
Published: Elsevier 2022-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506122002690
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author Tabea Steiner
Annika Zink
Marie-Therese Henke
Giulia Cecchetto
Miriam Buenning
Andrea Rossi
Markus Schuelke
Alessandro Prigione
author_facet Tabea Steiner
Annika Zink
Marie-Therese Henke
Giulia Cecchetto
Miriam Buenning
Andrea Rossi
Markus Schuelke
Alessandro Prigione
author_sort Tabea Steiner
collection DOAJ
description 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.
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spelling doaj.art-229638deae5746c4ad1ae9c1c32c57742022-12-22T04:37:09ZengElsevierStem Cell Research1873-50612022-10-0164102920RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy motherTabea Steiner0Annika Zink1Marie-Therese Henke2Giulia Cecchetto3Miriam Buenning4Andrea Rossi5Markus Schuelke6Alessandro Prigione7Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, GermanyCharité Universitätsmedizin, Berlin, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, GermanyGenome Engineering and Model Development Lab (GEMD), IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf 40225, GermanyCharité Universitätsmedizin, Berlin, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506122002690
spellingShingle Tabea Steiner
Annika Zink
Marie-Therese Henke
Giulia Cecchetto
Miriam Buenning
Andrea Rossi
Markus Schuelke
Alessandro Prigione
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
Stem Cell Research
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
url http://www.sciencedirect.com/science/article/pii/S1873506122002690
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