Establishment of induced pluripotent stem cell line CSUASOi003-A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene

Publication date: Available online 21 February 2020Source: Stem Cell ResearchAuthor(s): Yalan Zhou, Chengcheng Ding, Shutao Xia, Yutong Jing, Shengru Mao, Jian Liu, Juan Chen, Hon fai Chan, Shibo Tang, Jiansu ChenAbstractCrumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2809G>A p.A937T) in CRB1 gene was generated by non-integrative reprogramming technology. Pluripotency and differentiation capacity were assessed by immunocytochemistry and quantitative polymerase chain reaction (qPCR). The RP patient-specific iPS cell line provide a powerful model for evaluating the pathological phenotypes of the disease.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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The aim of the study was to investigate annual structural and functional results, and their correlation with inheritance pattern of retinitis pigmentosa (RP) patients who were treated with Wharton ’s jelly-deri...
Source: Stem Cell Research and Therapy - Category: Stem Cells Authors: Tags: Research Source Type: research
Abstract Inherited retinal degenerative disorders such as retinitis pigmentosa and Usher syndrome are characterized by progressive death of photoreceptor cells. To restore vision to patients blinded by these diseases, a stem cell-based photoreceptor cell replacement strategy will likely be required. Although retinal stem cell differentiation protocols suitable for generating photoreceptor cells exist, they often yield a rather heterogenous mixture of cell types. To enrich the donor cell population for one or a few cell types, scientists have traditionally relied upon the use of antibody-based selection approaches....
Source: Experimental Eye Research - Category: Opthalmology Authors: Tags: Exp Eye Res Source Type: research
Stem Cells and Development, Ahead of Print.
Source: Stem Cells and Development - Category: Stem Cells Authors: Source Type: research
Contributors : Amelia Lane ; Katarina Jovanovic ; Ciara Shortall ; Daniele Ottaviani ; Anna Brugulat Panes ; Rosellina Guarascio ; Nele Schwarz ; Matthew J Hayes ; Arpad Palfi ; Naomi Chadderton ; G J Farrar ; Alison J Hardcastle ; Michael E CheethamSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensMutations in RP2 lead to a severe form of X-linked retinitis pigmentosa (XLRP). RP2 functions as a GTPase activating protein (GAP) for the small GTPase ARL3, which is essential for cilia function and for photoreceptor development and maintenance. The mechanisms of RP2 associated retinal degen...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
ConclusionThis is the largest yet descriptive study of a series of patients with X-linked CGD and the McLeod phenotype. Although this disease combination is rare, the timely, accurate diagnosis of the McLeod phenotype is critical because of the serious post-transfusion complications. However, HSCT can be considered in these patients.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research
In this study, we used markers to monitor the formation of SGs in Caenorhabditis elegans. We found that, in addition to acute heat stress, SG formation could also be triggered by dietary changes, such as starvation and dietary restriction (DR). We found that HSF-1 is required for the SG formation in response to acute heat shock and starvation but not DR, whereas the AMPK-eEF2K signaling is required for starvation and DR-induced SG formation but not heat shock. Moreover, our data suggest that this AMPK-eEF2K pathway-mediated SG formation is required for lifespan extension by DR, but dispensable for the longevity by reduced ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Publication date: Available online 11 June 2020Source: Stem Cell ReportsAuthor(s): Amelia Lane, Katarina Jovanovic, Ciara Shortall, Daniele Ottaviani, Anna Brugulat Panes, Nele Schwarz, Rosellina Guarascio, Matthew J. Hayes, Arpad Palfi, Naomi Chadderton, G. Jane Farrar, Alison J. Hardcastle, Michael E. Cheetham
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
CONCLUSION: The demonstration of dyschromatopsia is very helpful in the diagnosis of inherited retinal diseases, in addition to modern imaging techniques, such as optical coherence tomography (OCT) and fundus fluorescence. New functional techniques enable quantification of color vision disturbances and could be useful as outcome parameters in clinical trials of new gene and stem cell-based therapies. PMID: 32458067 [PubMed - as supplied by publisher]
Source: Der Ophthalmologe - Category: Opthalmology Authors: Tags: Ophthalmologe Source Type: research
Publication date: Available online 30 April 2020Source: Stem Cell ResearchAuthor(s): Xiangchen Tang, Xingyu Liu, Zhigang Chen, Lixia Luo, Xialin Liu, Juan Deng, David Wan-Cheng Li, Yizhi Liu
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Approximately one-third of non-syndromic retinal dystrophies involve a defect in a ciliary protein. Non-syndromic retinal ciliopathies include retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis (LCA). Many CEP290-LCA patients also exhibit auditory and olfactory defects. Induced pluripotent stem cells (iPS) cells were derived from patients with LCA and unaffected relatives.   The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of these iPS cells.IC: NEINIH Ref. No.: E-100-2020Advantages: Extensive characteri...
Source: NIH OTT Licensing Opportunities - Category: Research Authors: Source Type: research
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