Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

Xiao Zhang, Sang Yoon Moon, Dan Zhang, Shang Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen

Research output: Contribution to journalArticle

Abstract

We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

Original languageEnglish
Article number101452
JournalStem Cell Research
Volume37
DOIs
Publication statusPublished - 1 May 2019

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    From discovery to therapy in genetic eye diseases

    Mackey, D., Craig, J., Burdon, K., Jamieson, R., Grigg, J., Chen, F., Otlowski, M., Schofield, D., MacGregor, S. & Hewitt, A.

    National Health & Medical Research Council NHMRC

    1/01/1631/12/20

    Project: Research

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