Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene
| Autor: | Laura Vallés-Saiz, Berta de la Cerda, Francisco J. Diaz-Corrales, Beatriz Ponte, Marina Moya-Molina, Andrea Díez-Lloret, Ana B. García-Delgado, S. S. Bhattacharya, Sofia Calado, Eduardo Rodríguez-Bocanegra |
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| Přispěvatelé: | Fundación Progreso y Salud, Instituto de Salud Carlos III, European Commission, Junta de Andalucía |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
PRPF31 Heterozygote Cellular differentiation Induced Pluripotent Stem Cells Karyotype Biology medicine.disease_cause Cell Line 03 medical and health sciences 0302 clinical medicine Retinitis pigmentosa medicine Humans Point Mutation Cellular Reprogramming Techniques Induced pluripotent stem cell Eye Proteins lcsh:QH301-705.5 Aged Retina Mutation Retinal pigment epithelium Point mutation Cell Differentiation Cell Biology General Medicine medicine.disease eye diseases Cell biology 030104 developmental biology medicine.anatomical_structure lcsh:Biology (General) Leukocytes Mononuclear Female sense organs 030217 neurology & neurosurgery Retinitis Pigmentosa Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 36, Iss, Pp-(2019) Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1876-7753 |
| Popis: | PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retinitis pigmentosa. A blood sample was obtained and mononuclear cells were reprogrammed using the non-integrative Sendai virus to generate the cell line CABi001-A. The iPSC line has been characterized for pluripotency and differentiation capacity and will be differentiated toward photoreceptors and retinal pigment epithelium cells to study the molecular mechanism of the disease and test possible therapeutic strategies. This work was supported by Fundación Progreso y Salud (Seville, Spain). This work was supported by ISCIII (Miguel Servet-I, 2015) cofinanced by European Regional Development Fund (ERDF) (CP/00071) and Consejeria de Salud, Igualdad y Politicas Sociales (PI-0099-2018), Seville, Spain. |
| Databáze: | OpenAIRE |
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