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.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1
AU - Chemla, Axel
AU - Arena, Giuseppe
AU - Saraiva, Claudia
AU - Berenguer-Escuder, Clara
AU - Grossmann, Dajana
AU - Grünewald, Anne
AU - Klein, Christine
AU - Seibler, Philip
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). CS is supported by the FNR CORE program C19/BM/13535609.
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). CS is supported by the FNR CORE program C19/BM/13535609. We thank the Stem Cell Medicine Gene Editing Facility at the Murdoch Children's Research Institute (The Royal Children's Hospital, Parkville, Victoria 3052 Australia) for the reprogramming and gene editing procedures. A special thanks to Sara Howden and Alison Graham for the regular feedback and support. We also thank the Victorian Clinical Genetics Services (VCGS, The Royal Children's Hospital, Parkville, Victoria 3052 Australia) for the assistance with the SNP array analyses.
Publisher Copyright:
© 2023 The Authors
PY - 2023/6
Y1 - 2023/6
N2 - 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).
AB - 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).
UR - http://www.scopus.com/inward/record.url?scp=85151291097&partnerID=8YFLogxK
UR - https://pubmed.ncbi.nlm.nih.gov/37003181
U2 - 10.1016/j.scr.2023.103085
DO - 10.1016/j.scr.2023.103085
M3 - Article
C2 - 37003181
AN - SCOPUS:85151291097
SN - 1873-5061
VL - 69
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 103085
ER -