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Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1

Primary skin fibroblasts from two Parkinson’s disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogrammin...

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Autores principales: Chemla, Axel, Arena, Giuseppe, Saraiva, Claudia, Berenguer-Escuder, Clara, Grossmann, Dajana, Grünewald, Anne, Klein, Christine, Seibler, Philip, Schwamborn, Jens C., Krüger, Rejko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240566/
https://www.ncbi.nlm.nih.gov/pubmed/37003181
http://dx.doi.org/10.1016/j.scr.2023.103085
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author Chemla, Axel
Arena, Giuseppe
Saraiva, Claudia
Berenguer-Escuder, Clara
Grossmann, Dajana
Grünewald, Anne
Klein, Christine
Seibler, Philip
Schwamborn, Jens C.
Krüger, Rejko
author_facet Chemla, Axel
Arena, Giuseppe
Saraiva, Claudia
Berenguer-Escuder, Clara
Grossmann, Dajana
Grünewald, Anne
Klein, Christine
Seibler, Philip
Schwamborn, Jens C.
Krüger, Rejko
author_sort Chemla, Axel
collection PubMed
description Primary skin fibroblasts from two Parkinson’s disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogramming. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. Here, we provide a comprehensive characterization and quality assurance of both isogenic pairs, which will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).
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spelling pubmed-102405662023-06-06 Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1 Chemla, Axel Arena, Giuseppe Saraiva, Claudia Berenguer-Escuder, Clara Grossmann, Dajana Grünewald, Anne Klein, Christine Seibler, Philip Schwamborn, Jens C. Krüger, Rejko Stem Cell Res Lab Resource: Genetically-Modified Multiple Cell Lines Primary skin fibroblasts from two Parkinson’s disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogramming. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. Here, we provide a comprehensive characterization and quality assurance of both isogenic pairs, which will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes). Elsevier 2023-06 /pmc/articles/PMC10240566/ /pubmed/37003181 http://dx.doi.org/10.1016/j.scr.2023.103085 Text en © 2023 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Lab Resource: Genetically-Modified Multiple Cell Lines
Chemla, Axel
Arena, Giuseppe
Saraiva, Claudia
Berenguer-Escuder, Clara
Grossmann, Dajana
Grünewald, Anne
Klein, Christine
Seibler, Philip
Schwamborn, Jens C.
Krüger, Rejko
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
title Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
title_full Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
title_fullStr Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
title_full_unstemmed Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
title_short Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
title_sort generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from parkinson’s disease patients carrying the heterozygous mutations c.1290a > g (p.t351a) or c.2067a > g (p.t610a) in the rhot1 gene encoding miro1
topic Lab Resource: Genetically-Modified Multiple Cell Lines
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240566/
https://www.ncbi.nlm.nih.gov/pubmed/37003181
http://dx.doi.org/10.1016/j.scr.2023.103085
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