Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Publication date: Available online 3 August 2020Source: Stem Cell ResearchAuthor(s): K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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Skeletal muscle contains multiple cell types that work together to maintain tissue homeostasis. Among these, satellite cells (SC) and fibroadipogenic precursor cells (FAPs) are the two main stem cell pools. Studies of these cells using animal models have shown the importance of interactions between these cells in repair of healthy muscle, and degeneration of dystrophic muscle. Due to the unavailability of fresh patient muscle biopsies, similar analysis of interactions between human FAPs and SCs is limited especially amongst the muscular dystrophy patients.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Skeletal muscle fibers are multinucleated cellular giants formed by the fusion of mononuclear myoblasts. Several molecules involved in myoblast fusion have been discovered, and finger-like projections coincident with myoblast fusion have also been implicated in the fusion process. The role of these cellular projections in muscle cell fusion was investigated herein. We demonstrate that these projections are filopodia generated by class X myosin (Myo10), an unconventional myosin motor protein specialized for filopodia. We further show that Myo10 is highly expressed by differentiating myoblasts, and Myo10 ablation inhibits bo...
Source: eLife - Category: Biomedical Science Tags: Cell Biology Stem Cells and Regenerative Medicine Source Type: research
Stem Cell Res. 2021 Sep 3;56:102530. doi: 10.1016/j.scr.2021.102530. Online ahead of print.ABSTRACTLAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope. The loss of expression and function of the LMNA gene would lead to the occurrence of congenital muscular dystrophy and Emery-Dreifuss muscular dystrophy which are collectively named as laminopathies. Here, we report a human induced pluripotent stem cell (iPSC) line (EHTJUi005-A-3) generated from a wild iPSC (EHTJUi005-A) with homozy...
Source: Cell Research - Category: Cytology Authors: Source Type: research
Stem Cell Res. 2021 Aug 5;55:102487. doi: 10.1016/j.scr.2021.102487. Online ahead of print.ABSTRACTEmery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac ...
Source: Cell Research - Category: Cytology Authors: Source Type: research
CONCLUSIONS: These findings indicate that COL6 supplementation improves muscle regeneration and maturation in UCMD model mice.PMID:34372931 | DOI:10.1186/s13287-021-02514-3
Source: Cell Research - Category: Cytology Authors: Source Type: research
Conclusions: We show that CRISPR/Cas9-mediated correction of DMD ΔEx44 mitigates structural, functional and transcriptional abnormalities consistent with dilated cardiomyopathy irrespective of how the protein reading frame is restored. We show that these effects extend to postnatal editing in iPSC-CMs and mice. These findings provide key insights into the utility of genome editing as a novel therapeutic for DMD-associated cardiomyopathy.PMID:34372664 | DOI:10.1161/CIRCRESAHA.121.319579
Source: Circulation Research - Category: Cardiology Authors: Source Type: research
Conclusions – We show that CRISPR/Cas9-mediated correction of DMD ΔEx44 mitigates structural, functional and transcrip tional dysregulation consistent with dilated cardiomyopathy irrespective of how the protein reading frame is restored. We show that these effects extend to postnatal editing in iPSC-CMs and mice. These findings provide key insights into the utility of genome editing as a novel therapeutic for DMD-as sociated cardiomyopathy.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
This article will review myogenic cell transplantation for congenital and acquired diseases of skeletal muscle. There are already a number of excellent reviews on this topic, but they are mostly focused on a specific disease, muscular dystrophies and in particular Duchenne Muscular Dystrophy. There are also recent reviews on cell transplantation for inflammatory myopathies, volumetric muscle loss (VML) (this usually with biomaterials), sarcopenia and sphincter incontinence, mainly urinary but also fecal. We believe it would be useful at this stage, to compare the same strategy as adopted in all these different diseases, in...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
microRNA 378a (miR-378a) is one of the most highly expressed microRNAs in the heart. However, its role in the human cardiac tissue has not been fully understood. It was observed that miR-378a protects cardiomyocytes from hypertrophic growth by regulation of IGF1R and the expression of downstream kinases. Increased levels of miR-378a were reported in the serum of Duchenne muscular dystrophy (DMD) patients and female carriers of DMD gene-associated mutations with developed cardiomyopathy. In order to shed more light on the role of miR-378a in human cardiomyocytes and its potential involvement in DMD-related cardiomyopathy, w...
Source: Journal of Molecular and Cellular Cardiology - Category: Cytology Authors: Source Type: research
In conclusion, our study demonstrated that elevated cumulative SBP or DBP was independently associated with increased risk of CVD in the Chinese population. Among participants with 15-year cumulative BP levels higher than the median, that is, 1970.8/1239.9 mmHg-year for cumulative SBP/DBP, which was equivalent to maintaining SBP/DBP level higher than 131/83 mmHg in 15 years, the CVD risk would increase significantly irrespective of whether or not the BP measurements at one examination was high. Our findings emphasize the importance of cumulative BP level in identifying individuals with high risk of CVD in the future. ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
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