Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by the progressive photoreceptors and pigment epithelial cells dysfunction. Here, we report the human induced pluripotent stem cell line (iPSC) CSUASOi006-A, generated from urine-derived cells (UCs) of a 17-year-old ma...
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Veröffentlicht in: | Stem cell research 2020-12, Vol.49, p.102041-102041, Article 102041 |
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Hauptverfasser: | , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by the progressive photoreceptors and pigment epithelial cells dysfunction. Here, we report the human induced pluripotent stem cell line (iPSC) CSUASOi006-A, generated from urine-derived cells (UCs) of a 17-year-old male patient with clinically diagnosed RP carrying point mutation (c.C5792T) in the pre-mRNA processing factor 8 gene (PRPF8). The newly derived CSUASOi006-A cell line has the patient’s same mutation (c.C5792T) and could provide useful resources for studying the pathogenic mechanism of PRPF8-related RP. |
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ISSN: | 1873-5061 1876-7753 |
DOI: | 10.1016/j.scr.2020.102041 |