Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)

Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)

Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While most RPE65 mutations associated with RP have been reported as aut...

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Main Authors: Yicheng Ding, Eva Carvalho, Cormac Murphy, Veronica McInerney, Janusz Krawczyk, Timothy O'Brien, Linda Howard, Li Cai, Sanbing Shen
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119302958
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spelling doaj-675c6f4f28d6479db515d17dd110784e2020-11-25T02:35:13ZengElsevierStem Cell Research1873-50612020-03-0143Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)Yicheng Ding0Eva Carvalho1Cormac Murphy2Veronica McInerney3Janusz Krawczyk4Timothy O'Brien5Linda Howard6Li Cai7Sanbing Shen8Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, IrelandRegenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, IrelandRegenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, IrelandHRB Clinical Research Facility, National University of Ireland (NUI) Galway, IrelandDepartment of Haematology, Galway University Hospital, IrelandRegenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, IrelandRegenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, IrelandDepartment of Ophthalmology, Shenzhen University General Hospital, Shenzhen University Clinical Medical Academy, Shenzhen, China; Corresponding author.Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland; Corresponding author at: Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland.Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While most RPE65 mutations associated with RP have been reported as autosome, an Irish c.1430A > G (p.D477G) mutation is the first case reported to cause dominantly inherited RP. In this study, we used the non-integrational Sendai virus to generate induced pluripotent stem cell (iPSC) lines carrying the c.1430A > G (p.D477G) mutation from three familial RP patients.http://www.sciencedirect.com/science/article/pii/S1873506119302958
collection DOAJ
language English
format Article
sources DOAJ
author Yicheng Ding
Eva Carvalho
Cormac Murphy
Veronica McInerney
Janusz Krawczyk
Timothy O'Brien
Linda Howard
Li Cai
Sanbing Shen
spellingShingle Yicheng Ding
Eva Carvalho
Cormac Murphy
Veronica McInerney
Janusz Krawczyk
Timothy O'Brien
Linda Howard
Li Cai
Sanbing Shen
Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
Stem Cell Research
author_facet Yicheng Ding
Eva Carvalho
Cormac Murphy
Veronica McInerney
Janusz Krawczyk
Timothy O'Brien
Linda Howard
Li Cai
Sanbing Shen
author_sort Yicheng Ding
title Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
title_short Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
title_full Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
title_fullStr Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
title_full_unstemmed Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)
title_sort derivation of familial ipsc lines from three patients with retinitis pigmentosa carrying an autosomal dominant rpe65 mutation (nuigi027-a, nuigi028-a, nuigi029-a)
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-03-01
description Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While most RPE65 mutations associated with RP have been reported as autosome, an Irish c.1430A > G (p.D477G) mutation is the first case reported to cause dominantly inherited RP. In this study, we used the non-integrational Sendai virus to generate induced pluripotent stem cell (iPSC) lines carrying the c.1430A > G (p.D477G) mutation from three familial RP patients.
url http://www.sciencedirect.com/science/article/pii/S1873506119302958
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