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Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.pdf
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Journal article
Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200
Stem Cell Research, Vol.51, Article 102154
2021
Abstract
The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were transfected with episomal plasmids carrying transgenes encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi015-A and LEIi015-B expressed iPSC markers, were free from genomic alterations and demonstrated trilineage differentiation potential.
Details
- Title
- Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200
- Authors/Creators
- D. Zhang (Author/Creator)S. McLenachan (Author/Creator)S.-C. Chen (Author/Creator)K. Zaw (Author/Creator)Y. Alziyadat (Author/Creator)X. Zhang (Author/Creator)T.M. Lamey (Author/Creator)J.A. Thompson (Author/Creator)T.L. McLaren (Author/Creator)C. Mellough (Author/Creator)J.N. De Roach (Author/Creator)F.K. Chen (Author/Creator)
- Publication Details
- Stem Cell Research, Vol.51, Article 102154
- Publisher
- Elsevier B.V.
- Identifiers
- 991005544833407891
- Copyright
- © 2020 The Author(s)
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- 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