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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Condition:   Retinitis Pigmentosa Interventions:   Biological: Umbilical Cord Mesenchymal Stem Cell (UC-MSC);   Biological: Conditioned Medium (CM) Sponsor:   PT. Prodia Stem Cell Indonesia Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
ABSTRACT Degenerative retinal diseases such as retinitis pigmentosa, Stargardt ’ s macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them.RESUMO As doen ças degenerativas da retina, como retinose pigmentar, distrofia macular de Stargardt e degeneração macular relaciona &agrav...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
ABSTRACT Degenerative retinal diseases such as retinitis pigmentosa, Stargardt ’ s macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them.RESUMO As doen ças degenerativas da retina, como retinose pigmentar, distrofia macular de Stargardt e degeneração macular relaciona &agrav...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
This study aim at exploring the effect of retinal pigment epithelium (RPE) derived from human...
Source: Stem Cell Research and Therapy - Category: Stem Cells Authors: Tags: Research Source Type: research
Conditions:   Retinitis Pigmentosa;   Inherited Retinal Dystrophy Intervention:   Biological: Wharton's jelly derived mesenchymal stem cell Sponsor:   Ankara Universitesi Teknokent Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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