Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301795 |
| _version_ | 1818037298188517376 |
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| author | Zhiqin Huang Dan Zhang Shang-Chih Chen Jennifer A. Thompson Terri McLaren Tina Lamey John N. De Roach Samuel McLenachan Fred K. Chen |
| author_facet | Zhiqin Huang Dan Zhang Shang-Chih Chen Jennifer A. Thompson Terri McLaren Tina Lamey John N. De Roach Samuel McLenachan Fred K. Chen |
| author_sort | Zhiqin Huang |
| collection | DOAJ |
| description | Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD. |
| first_indexed | 2024-12-10T07:24:37Z |
| format | Article |
| id | doaj.art-143f11197f1f4698978d09c15fc01107 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-10T07:24:37Z |
| publishDate | 2019-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-143f11197f1f4698978d09c15fc011072022-12-22T01:57:43ZengElsevierStem Cell Research1873-50612019-10-0140Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutationsZhiqin Huang0Dan Zhang1Shang-Chih Chen2Jennifer A. Thompson3Terri McLaren4Tina Lamey5John N. De Roach6Samuel McLenachan7Fred K. Chen8Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, AustraliaLions Eye Institute, Nedlands, Western Australia, AustraliaLions Eye Institute, Nedlands, Western Australia, AustraliaAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, AustraliaCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, AustraliaCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, AustraliaCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, AustraliaCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Corresponding author at: Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Australia.Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, AustraliaVariants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.http://www.sciencedirect.com/science/article/pii/S1873506119301795 |
| spellingShingle | Zhiqin Huang Dan Zhang Shang-Chih Chen Jennifer A. Thompson Terri McLaren Tina Lamey John N. De Roach Samuel McLenachan Fred K. Chen Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations Stem Cell Research |
| title | Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations |
| title_full | Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations |
| title_fullStr | Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations |
| title_full_unstemmed | Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations |
| title_short | Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations |
| title_sort | generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with rcbtb1 frameshifting mutations |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301795 |
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