Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene
Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003210 |
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| Summary: | Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies. |
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| ISSN: | 1873-5061 |