Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation

Fernández-Susavila, Héctor; Mora, Cristina; Aramburu-Núñez, Marta; Quintas-Rey, R; Arias, Susana; Collado, Manuel; López-Arias, Esteban; Sobrino, Tomás; Castillo, José; Dell’Era, Patrizia; Campos, Francisco

doi:10.1016/j.scr.2018.01.023

Cited by 10 publications

(8 citation statements)

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“…These processes have not been demonstrated in human disease. Molecular systems that have been implicated in CADASIL patients include decreased TRPV1 channel expression, altered PDGF signaling, and oxidative stress (20)(21)(22)(23)(24). However, these studies were performed in human cell lines from the umbilical cord, skin fibroblasts, and induced pluripotent stem cells, which have little relevance in the vasculopathy of CADASIL (19)(20)(21)(22).…”

Section: Discussionmentioning

confidence: 99%

“…Cell-based studies using cultured umbilical VSMCs from a CADASIL patient reported increased expression of proteins involved in protein degradation/folding, cytoskeletal organization, contraction, and cell stress (19). In human induced pluripotent stem cells generated from CADASIL somatic cells and in skin fibroblasts of CADASIL patients, increased platelet-derived growth factor (PDGF) signaling, enhanced TGF-β expression, endoplasmic reticulum (ER) retention of mutant Notch3 aggregates, and oxidative and ER stress have been described (20)(21)(22)(23)(24).…”

Section: Introductionmentioning

confidence: 99%

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ER stress and Rho kinase activation underlie the vasculopathy of CADASIL

et al. 2019

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

ER stress and Rho kinase activation underlie the vasculopathy of CADASIL

et al. 2019

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“…As CADASIL is a monogenic disease, the CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats) is a promising technique in gene editing, both in designing the cell lines or animal models of disease and in gene therapy. Fernández-Susavila et al [11] in 2018 generated and characterized the human iPSC isolated from a CADA-SIL patient carrying the NOTCH3 mutation, which in the future may be used for the evaluation of the gene therapy in a CADASIL model.…”

Section: Discussionmentioning

confidence: 99%

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL

Dorszewska

Kowalska

Grzegorski

et al. 2020

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Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary, progressive ischemic disease of small vessels of the brain characterized by migraine with aura (MA), recurrent subcortical ischemic episodes, cognitive decline and psychiatric disorders. CADASIL is caused by mutations in the NOTCH3 gene. We identified the NOTCH3 Y189C mutation as a genetic cause of CADASIL in a Polish family and provided its first clinical manifestation. Material and methods: The study included twelve subjects from one family. The NOTCH3 mutation, APOE and MTHFR polymorphisms were determined by high-resolution melting analyses (HRMA) and Sanger sequencing. Neuroimaging included CT and MRI. Ultrastructural examination of skin-muscle biopsy material of the proband was performed. Results: The NOTCH3 Y189C mutation was present in a 36-year-old woman and her two sisters (aged 40 and 27) from 6 siblings. The MA was found in all of them, and started or became more severe after childbirth. The numerous T2/FLAIR hyperintense lesions were shown in the brain MRI. The deposition of granular osmiophilic material in the wall of small vessels of the proband observed in histopathological analysis confirmed the high degree of CADASIL severity. Conclusions: Patients with the Y189C mutation of NOTCH3 from the same family display a similar phenotype of CADASIL.

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“…Besides its neuroprotective or neuroreparative application, the use of iPSCs for stroke modeling has been poorly exploited mainly because this is a neurological pathology with multiple affected cells types and reduced genetic component, compared to other neurological diseases such as Alzheimer's or Parkinson's. However, the use of iPSCs has been recently explored to model neurovascular pathologies associated with risk of stroke (11, 12), opening a promising approach in the study of these neurovascular diseases.…”

Section: Introductionmentioning

confidence: 99%

Adult Stem Cells and Induced Pluripotent Stem Cells for Stroke Treatment

et al. 2019

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Stroke is the main cause of disability and death in the world within neurological diseases. Despite such a huge impact, enzymatic, and mechanical recanalization are the only treatments available so far for ischemic stroke, but only <20% of patients can benefit from them. The use of stem cells as a possible cell therapy in stroke has been tested for years. The results obtained from these studies, although conflicting or controversial in some aspects, are promising. In the last few years, the recent development of the induced pluripotent stem cells has opened new possibilities to find new cell therapies against stroke. In this review, we will provide an overview of the state of the art of cell therapy in stroke. We will describe the current situation of the most employed stem cells and the use of induced pluripotent stem cells in stroke pathology. We will also present a summary of the different clinical trials that are being carried out or that already have results on the use of stem cells as a potential therapeutic intervention for stroke.

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Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation

Cited by 10 publications

References 3 publications

ER stress and Rho kinase activation underlie the vasculopathy of CADASIL

ER stress and Rho kinase activation underlie the vasculopathy of CADASIL

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL

Adult Stem Cells and Induced Pluripotent Stem Cells for Stroke Treatment

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