Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1

Axel Chemla; Giuseppe Arena; Gizem Onal; Jonas Walter; Clara Berenguer-Escuder; Dajana Grossmann; Anne Grünewald; Jens C. Schwamborn; Rejko Krüger

doi:10.1016/j.scr.2023.103145

Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1

Axel Chemla, Giuseppe Arena^*, Gizem Onal, Jonas Walter, Clara Berenguer-Escuder, Dajana Grossmann, Anne Grünewald, Jens C. Schwamborn, Rejko Krüger^*

^*Corresponding author for this work

Transversal Translational Medicine

Research output: Contribution to journal › Article › Research › peer-review

Abstract

Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).

Original language	English
Article number	103145
Journal	Stem Cell Research
Volume	71
Early online date	14 Jun 2023
DOIs	https://doi.org/10.1016/j.scr.2023.103145
Publication status	Published - Sept 2023

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Chemla, A., Arena, G., Onal, G., Walter, J., Berenguer-Escuder, C., Grossmann, D., Grünewald, A., Schwamborn, J. C., & Krüger, R. (2023). Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1. Stem Cell Research, 71, Article 103145. Advance online publication. https://doi.org/10.1016/j.scr.2023.103145

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title = "Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1",

abstract = "Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).",

author = "Axel Chemla and Giuseppe Arena and Gizem Onal and Jonas Walter and Clara Berenguer-Escuder and Dajana Grossmann and Anne Gr{\"u}newald and Schwamborn, {Jens C.} and Rejko Kr{\"u}ger",

note = "Funding Information: AC is supported by the Luxembourg Fonds National de Recherche (FNR) within the framework of the PARK-QC DTU (PRIDE17/12244779/PARK-QC). Work of GA is supported by the FNR, grant number C21/BM/15850547/PINK1-DiaPDs. Work of AG was supported by the FNR within the ATTRACT program (Model-IPD, FNR9631103). RK obtained funding from the FNR PEARL Excellence Programme [FNR/P13/6682797], the Michael J. Fox Foundation, and the European Union's Horizon2020 research and innovation program (WIDESPREAD; CENTRE-PD; grant agreement no. 692320). In addition, RK, AG and GA were supported by the FNR CORE grant MiRisk-PD (C17/BM/11676395). Funding Information: AC is supported by the Luxembourg Fonds National de Recherche (FNR) within the framework of the PARK-QC DTU (PRIDE17/12244779/PARK-QC). Work of GA is supported by the FNR, grant number C21/BM/15850547/PINK1-DiaPDs. Work of AG was supported by the FNR within the ATTRACT program (Model-IPD, FNR9631103). RK obtained funding from the FNR PEARL Excellence Programme [FNR/P13/6682797], the Michael J. Fox Foundation , and the European Union{\textquoteright}s Horizon2020 research and innovation program (WIDESPREAD; CENTRE-PD ; grant agreement no. 692320 ). In addition, RK, AG and GA were supported by the FNR CORE grant MiRisk-PD ( C17/BM/11676395 ). Publisher Copyright: {\textcopyright} 2023 The Author(s)",

year = "2023",

month = sep,

doi = "10.1016/j.scr.2023.103145",

language = "English",

volume = "71",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

Chemla, A, Arena, G, Onal, G, Walter, J, Berenguer-Escuder, C, Grossmann, D, Grünewald, A, Schwamborn, JC & Krüger, R 2023, 'Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1', Stem Cell Research, vol. 71, 103145. https://doi.org/10.1016/j.scr.2023.103145

Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1. / Chemla, Axel; Arena, Giuseppe; Onal, Gizem et al.
In: Stem Cell Research, Vol. 71, 103145, 09.2023.

Research output: Contribution to journal › Article › Research › peer-review

TY - JOUR

T1 - Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1

AU - Chemla, Axel

AU - Arena, Giuseppe

AU - Onal, Gizem

AU - Walter, Jonas

AU - Berenguer-Escuder, Clara

AU - Grossmann, Dajana

AU - Grünewald, Anne

AU - Schwamborn, Jens C.

AU - Krüger, Rejko

N1 - Funding Information: AC is supported by the Luxembourg Fonds National de Recherche (FNR) within the framework of the PARK-QC DTU (PRIDE17/12244779/PARK-QC). Work of GA is supported by the FNR, grant number C21/BM/15850547/PINK1-DiaPDs. Work of AG was supported by the FNR within the ATTRACT program (Model-IPD, FNR9631103). RK obtained funding from the FNR PEARL Excellence Programme [FNR/P13/6682797], the Michael J. Fox Foundation, and the European Union's Horizon2020 research and innovation program (WIDESPREAD; CENTRE-PD; grant agreement no. 692320). In addition, RK, AG and GA were supported by the FNR CORE grant MiRisk-PD (C17/BM/11676395). Funding Information: AC is supported by the Luxembourg Fonds National de Recherche (FNR) within the framework of the PARK-QC DTU (PRIDE17/12244779/PARK-QC). Work of GA is supported by the FNR, grant number C21/BM/15850547/PINK1-DiaPDs. Work of AG was supported by the FNR within the ATTRACT program (Model-IPD, FNR9631103). RK obtained funding from the FNR PEARL Excellence Programme [FNR/P13/6682797], the Michael J. Fox Foundation , and the European Union’s Horizon2020 research and innovation program (WIDESPREAD; CENTRE-PD ; grant agreement no. 692320 ). In addition, RK, AG and GA were supported by the FNR CORE grant MiRisk-PD ( C17/BM/11676395 ). Publisher Copyright: © 2023 The Author(s)

PY - 2023/9

Y1 - 2023/9

N2 - Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).

AB - Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).

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UR - https://pubmed.ncbi.nlm.nih.gov/37364399

U2 - 10.1016/j.scr.2023.103145

DO - 10.1016/j.scr.2023.103145

M3 - Article

C2 - 37364399

SN - 1873-5061

VL - 71

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103145

ER -

Chemla A, Arena G, Onal G, Walter J, Berenguer-Escuder C, Grossmann D et al. Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1. Stem Cell Research. 2023 Sept;71:103145. Epub 2023 Jun 14. doi: 10.1016/j.scr.2023.103145

Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1

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