Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)

Publication date: Available online 9 January 2020Source: Stem Cell ResearchAuthor(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Lena Wendeburg, Doris Steinemann, Christiane Elpers, Frank Rutsch, Renate KönigAbstractAicardi-Goutières syndrome (AGS) is a hereditary early onset encephalopathy. AGS patients display variable clinical manifestations including intracranial calcification, cerebral atrophy, white matter abnormalities and characteristic leukocytosis as well as a constitutive upregulation of type I IFN production indicative of a type I interferonopathy. Seven genes (SAMHD1, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, IFIH1) have been associated with the AGS phenotype, up to now. Here, we describe the generation of three induced pluripotent stem cell lines from a patient with a deletion of coding exons 14 and 15 of the SAMHD1 gene.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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Contributors : Tiyun Wu ; Xiongfong Chen ; Keiko OzatoSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusBrd4f/f ERT2Cre MEFs are a type of fibroblast prepared from Brd4f/f ERT2Cre/- mouse embryo. MEFs are widely used in life science researches, especially in stem cell biology. Using RNAseq it was shown that many of cell cycle genes were under control of BRD4. Purpose of this study was to assess the effect of BRD4 KO in NGS derived transcriptome profiles of both WT and BRD4KO cells.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Authors: Shapiro RM, Antin JH Abstract Introduction: The traditional therapeutic modalities to manage SR-acute GVHD have focused on the inhibition of the alloreactive T-cell response, while in the setting of SR-chronic GVHD the focus has been on a combination of T-cell and B-cell targeting strategies. However, new therapeutic modalities have shown promise. The purpose of this review is to summarize the current treatment landscape of SR-acute and chronic GVHD.Areas covered: A systematic search of MEDLINE, EMBASE, and clinicaltrials.gov databases for published articles, abstracts, and clinical trials pertaining to av...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Purpose of review This review highlights recent progress in applying genome editing to the study and treatment of cardiovascular disease (CVD). Recent findings Recent work has shown that genome editing can be used to determine the pathogenicity of variants of unknown significance in patient-derived induced pluripotent stem cells. These cells can also be used to test therapeutic genome editing approaches in a personalized manner. Somatic genome editing holds great promise for the treatment of CVD, and important proof of concept experiments have already been performed in animal models. Here we briefly review recent prog...
Source: Current Opinion in Cardiology - Category: Cardiology Tags: MOLECULAR GENETICS: Edited by Ali J. Marian Source Type: research
In this study, we showed that osteoporosis is highly associated with reduction in hematopoietic autophagy activity in humans. We showed that an autophagy defect in the hematological system leads to severe bone loss. The disturbed osteocyte homeostasis is apparently caused by impaired type H blood vessels and possibly an aberrant alteration in the extracellular matrix (ECM) pathways that govern osteocyte homeostasis in hematopoietic autophagy-defective mice. Our results thus suggest that autophagy in the adjacent hematopoietic cells is essential to maintain bone homeostasis, and chronic hematopoietic autophagy deficiency ca...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
Publication date: Available online 6 April 2020Source: CellAuthor(s): Chun-Jie Guo, Xu-Kai Ma, Yu-Hang Xing, Chuan-Chuan Zheng, Yi-Feng Xu, Lin Shan, Jun Zhang, Shaohua Wang, Yangming Wang, Gordon G. Carmichael, Li Yang, Ling-Ling Chen
Source: Cell - Category: Cytology Source Type: research
Infertility caused by chemotherapy or radiation treatments negatively impacts patient-survivor quality of life. The only fertility preservation option available to prepubertal boys who are not making sperm is cryopreservation of testicular tissues that contain spermatogonial stem cells (SSCs) with potential to produce sperm and/or restore fertility. SSC transplantation to regenerate spermatogenesis in infertile adult survivors of childhood cancers is a mature technology. However, the number of SSCs obtained in a biopsy of a prepubertal testis may be small. Therefore, methods to expand SSC numbers in culture before transpla...
Source: Urologic Clinics of North America - Category: Urology & Nephrology Authors: Source Type: research
Condition:   COVID-19 Interventions:   Biological: allogeneic human dental pulp stem cells (BSH BTC&Utooth BTC);   Other: Intravenous saline injection (Placebo) Sponsors:   Renmin Hospital of Wuhan University;   Beijing SH Bio-Tech Corporation, Beijing (CN);   Utooth Biological Technology Co., Ltd. Hubei (CN) Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   Graft Vs Host Disease;   Graft-versus-host-disease Intervention:   Device: CliniMacs® Sponsor:   Christopher Dvorak Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
In most cell therapies, the transplanted cells do not survive for long, or in large numbers. They produce beneficial effects, such as reduced inflammation or enhanced regeneration, via signaling that changes the behavior of native cell populations. Considerable effort is going into finding ways to make cells used in therapy survive for a longer period of time following transplantation. The approach taken here is to engineer a fraction of the transplanted cells to produce a growth factor that improves the survival of the others. The results are demonstrated in an animal model, showing a greater regeneration of heart muscle....
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
(World Scientific) Called the " Grandfather of stem cell research advocacy " , Don C. Reed has been fighting for funding for 25 years, ever since his son was paralyzed in a college football accident. America's first stem cell therapy was paid for by a bill named after his son, the Roman Reed Spinal Cord Injury Research Act of 1999. In his new book, Reed argues strongly for CIRM's renewal.
Source: EurekAlert! - Infectious and Emerging Diseases - Category: Infectious Diseases Source Type: news
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