Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene
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 mo...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350611930056X |
| _version_ | 1818903679142461440 |
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| author | Berta de la Cerda Andrea Díez-Lloret Beatriz Ponte Laura Vallés-Saiz Sofia M. Calado Eduardo Rodríguez-Bocanegra Ana B. Garcia-Delgado Marina Moya-Molina Shom S. Bhattacharya Francisco J. Díaz-Corrales |
| author_facet | Berta de la Cerda Andrea Díez-Lloret Beatriz Ponte Laura Vallés-Saiz Sofia M. Calado Eduardo Rodríguez-Bocanegra Ana B. Garcia-Delgado Marina Moya-Molina Shom S. Bhattacharya Francisco J. Díaz-Corrales |
| author_sort | Berta de la Cerda |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T20:55:22Z |
| format | Article |
| id | doaj.art-bbbee2807e8843b19c94bf566e287f42 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-19T20:55:22Z |
| publishDate | 2019-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-bbbee2807e8843b19c94bf566e287f422022-12-21T20:05:59ZengElsevierStem Cell Research1873-50612019-04-0136Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 geneBerta de la Cerda0Andrea Díez-Lloret1Beatriz Ponte2Laura Vallés-Saiz3Sofia M. Calado4Eduardo Rodríguez-Bocanegra5Ana B. Garcia-Delgado6Marina Moya-Molina7Shom S. Bhattacharya8Francisco J. Díaz-Corrales9Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, Spain; Corresponding author.Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainUniversity Hospital Virgen Macarena, RETICS Oftared, Carlos III Institute of Health (Spain), Ministry of Health RD16/0008/0010, Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainDepartment of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, 24, 41092 Seville, SpainPRPF31 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.http://www.sciencedirect.com/science/article/pii/S187350611930056X |
| spellingShingle | Berta de la Cerda Andrea Díez-Lloret Beatriz Ponte Laura Vallés-Saiz Sofia M. Calado Eduardo Rodríguez-Bocanegra Ana B. Garcia-Delgado Marina Moya-Molina Shom S. Bhattacharya Francisco J. Díaz-Corrales Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene Stem Cell Research |
| title | Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene |
| title_full | Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene |
| title_fullStr | Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene |
| title_full_unstemmed | Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene |
| title_short | Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene |
| title_sort | generation and characterization of the human ipsc line cabi001 a from a patient with retinitis pigmentosa caused by a novel mutation in prpf31 gene |
| url | http://www.sciencedirect.com/science/article/pii/S187350611930056X |
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