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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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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). |
format | Online Article Text |
id | pubmed-10240566 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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