An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene

Publication date: Available online 23 March 2019Source: Stem Cell ResearchAuthor(s): Wei Huang, Miao Xu, Rong Li, Amanda Baskfield, Jennifer Kouznetsova, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei ZhengAbstractMucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has homozygous mutations of G>A transversion at nucleotide 457 of the NAGLU gene (457G>A), resulting in a substitution of lysine for glutamic acid at codon 153 (E153K). This iPSC line allows for the study of disease phenotypes and pathophysiology as well as disease modeling in human cells.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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Publication date: Available online 18 April 2019Source: Colloids and Surfaces B: BiointerfacesAuthor(s): Xinkun Shen, Yonglin Yu, Pingping Ma, Zhong Luo, Yan Hu, Menghuan Li, Ye He, Yangyang Zhang, Zhihong Peng, Guanbin Song, Kaiyong CaiAbstractBefore mesenchymal stem cells (MSCs) adhere to the surface of an implant and differentiate into osteoblasts, monocytes (especially macrophages) arrive at the bone injury site and interact with the implant and subsequent MSCs. In our previous study, large titania nanotubes (TNT110) had been verified to endow superior oxidation resistance to osteoblasts. The early regulation between m...
Source: Colloids and Surfaces B: Biointerfaces - Category: Biochemistry Source Type: research
This study aimed to determine the safety and tolerability of the subretinal injection of hESC-derived RPE cells at higher doses than the established clinical dose (5 × 104 cells/150 μL) by using minipigs. The hESC-derived RPE cells (60 or 120 × 104 cells/150 μL) were injected in subretinal region, and minipigs were sacrificed at Weeks 4, 8, and 12 post-surgery. Time-course examination was performed by using fundus photography, optical coherence tomography (OCT), histopathology, and fluorescence in situ hybridization (FISH). After surgery, retinal bleb and pigmentation were seen and retinal...
Source: Regulatory Toxicology and Pharmacology - Category: Toxicology Source Type: research
Authors: Paul A, Thomson VS, Refat M, Al-Rawahi B, Taher A, Nadar SK Abstract Despite the advances in the management of thalassaemia major, heart disease remains the leading cause of mortality in patients afflicted with this disorder. Cardiac involvement in thalassaemia encompasses a spectrum of disorders including myocardial dysfunction, arrhythmias, pulmonary hypertension and peripheral vascular disease. Although cardiac siderosis (accumulation of iron in cardiac myocytes) as a consequence of repeated blood transfusions is deemed to be the main aetiologic factor for myocardial dysfunction in transfusion dependent...
Source: Postgraduate Medicine - Category: Internal Medicine Tags: Postgrad Med Source Type: research
Authors: Hashimoto H, Eto T, Yamamoto M, Yagoto M, Goto M, Kagawa T, Kojima K, Kawai K, Akimoto T, Takahashi RI Abstract In Japan, it is possible to generate chimeric animals from specified embryos by combining animal blastocysts with human pluripotent stem (PS) cells (animal-human PS chimera). However, the production of animal-human PS chimeras has been restricted because of ethical concerns, such as the development of human-like intelligence and formation of humanized gametes in the animals, owing to the contributions of human PS cells to the brain and reproductive organs. To solve these problems, we established ...
Source: Experimental Animals - Category: Research Tags: Exp Anim Source Type: research
ConclusionCombined use of HAM with mesenchymal stem cells may enhance bone regeneration specifically in the horizontal dimension. Moreover, this methodology reduces the amount of harvested autogenous bone and diminish secondary bone resorption.
Source: Journal of Cranio Maxillofacial Surgery - Category: ENT & OMF Source Type: research
Publication date: Available online 19 April 2019Source: Clinical Lymphoma Myeloma and LeukemiaAuthor(s): Pavel Jindra, Luděk Raida, Michal Karas, Tomáš Szotkowski, Daniel Lysák, Marcela Hrabětová, Alexandra Jungová, Kateřina Steinerová, Edgar Faber, Tomáš PapajíkAbstract:Patients with FLT3-ITD AML have a poor outcome and early allogeneic stem cell transplantation (alloSCT) seems to be only curative modality. Our data confirm the early alloSCT remains the best consolidation therapy (even for older patients) and should be performed immediately in CR1. The unsa...
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: Isolated corneal endothelial decompensation after chemical burns has not yet been described. The pathophysiological explanation of this observation remains, however, unknown. In view of this rare complication, it is important to follow patients after chemical ocular burn for possible development of endothelial decompensation. PMID: 30999333 [PubMed - in process]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
Abstract Germline stem cells are sexually indifferent or flexible even in the mature ovary and testis. Acquiring sex identity consistent with the sex of the body is a critical issue in germline stem cells for producing eggs or sperm. However, the molecular mechanism of the sexual fate decision in germ cells is unclear. Medaka is the first vertebrate in which germline stem cells were found in the mature ovary (Nakamura, Kobayashi, Nishimura, Higashijima, &Tanaka, 2010), and a germ cell autonomous switch gene involved in the sexual fate decision, foxl3, was identified (Nishimura et al., 2015) in vertebrates. Her...
Source: Current Topics in Developmental Biology - Category: Biology Authors: Tags: Curr Top Dev Biol Source Type: research
Abstract Germ cells are the stem cells of the species. Thus, it is critical that we have a good understanding of how they are specified, how the somatic cells instruct and support them, how they commit to one or other sex, and how they ultimately develop into functional gametes. Here, we focus on specifics of how sexual fate is determined during fetal life. Because the majority of relevant experimental work has been done using the mouse model, we focus on that species. We review evidence regarding the identity of instructive signals from the somatic cells, and the molecular responses that occur in germ cells in re...
Source: Current Topics in Developmental Biology - Category: Biology Authors: Tags: Curr Top Dev Biol Source Type: research
Scleroderma is one of the main clinical features of chronic graft-versus-host disease (cGVHD), in which donor immune cells react against host tissues after allogeneic hematopoietic stem cell transplant. It has been reported that interferon (IFN)- γ released by donor T cells promotes infiltration of donor T cells themselves into the skin, and mediates production of transforming growth factor (TGF)-β from macrophages in the pathogenesis of sclerodermatous cGVHD. To investigate the roles of host keratinocytes, which are the targets for donor T cells, in skin fibrosis of cGVHD, we established a new murine model of s...
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Adaptive and Auto-Immunity Source Type: research
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