Journal article
Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
Stem Cell Research, Vol.34
2018
Abstract
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ layer lineages.
Details
- Title
- Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
- Authors/Creators
- S. McLenachan (Author/Creator) - The University of Western AustraliaD. Zhang (Author/Creator) - Lions Eye InstituteX. Zhang (Author/Creator) - The University of Western AustraliaS-C Chen (Author/Creator) - Lions Eye InstituteT. Lamey (Author/Creator) - The University of Western AustraliaJ.A. Thompson (Author/Creator) - Sir Charles Gairdner HospitalT. McLaren (Author/Creator) - Sir Charles Gairdner HospitalJ.N. De Roach (Author/Creator) - The University of Western AustraliaS. Fletcher (Author/Creator) - Murdoch UniversityF.K. Chen (Author/Creator) - The University of Western Australia
- Publication Details
- Stem Cell Research, Vol.34
- Publisher
- Elsevier B.V.
- Identifiers
- 991005543537707891
- Copyright
- © 2018 The Authors.
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
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- Citation topics
- 1 Clinical & Life Sciences
- 1.36 Ophthalmology
- 1.36.212 Genetic Retinopathies
- Web Of Science research areas
- Biotechnology & Applied Microbiology
- Cell & Tissue Engineering
- Cell Biology
- ESI research areas
- Molecular Biology & Genetics