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 Miro1Chemla, Axel ; Arena, Giuseppe ; et alin Stem Cell Research (2023) 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 ... [more ▼] 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). [less ▲] Detailed reference viewed: 207 (3 UL) The Parkinson’s-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1; Bolognin, Silvia ; et alin Cell Reports (2021) Detailed reference viewed: 180 (11 UL) Parkinson’s disease phenotypes in patient neuronal cultures and brain organoids improved by 2-Hydroxypropyl-b-Cyclodextrin treatmentJarazo, Javier ; Barmpa, Kyriaki ; et alin Movement Disorders (2021) Detailed reference viewed: 224 (25 UL) Impaired Mitochondrial-Endoplasmic Reticulum Interaction and Mitophagy in Miro1-Mutant Neurons in Parkinson’s Disease; ; Antony, Paul et alin Human Molecular Genetics (2020) Detailed reference viewed: 457 (27 UL) Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patientsNickels, Sarah ; ; Bolognin, Silvia et alin Parkinsonism and Related Disorders (2019) Detailed reference viewed: 333 (43 UL) Neural Stem Cells of Parkinson's Disease Patients Exhibit Aberrant Mitochondrial Morphology and Functionality; Bolognin, Silvia ; Antony, Paul et alin Stem Cell Reports (2019) Detailed reference viewed: 392 (37 UL) |
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