UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

Parfitt, DA; Lane, A; Ramsden, C; Jovanovic, K; Coffey, PJ; Hardcastle, AJ; Cheetham, ME; (2016) Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies. Biochemical Society Transactions , 44 (5) pp. 1245-1251. 10.1042/BST20160156. Green open access

[thumbnail of Parfitt_Using_induced_pluripotent.pdf]
Preview
Text
Parfitt_Using_induced_pluripotent.pdf - Accepted Version

Download (522kB) | Preview

Abstract

The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully differentiated photoreceptors in vitro has limited the application of this technology in studying retinal degeneration. In this review, we will discuss recent advances in stem cell technology and photoreceptor differentiation. In particular, the development of photoreceptors with rudimentary OS that can be used to understand disease mechanisms and as an important model to test potential new therapies for inherited retinal ciliopathies.

Type: Article
Title: Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1042/BST20160156
Publisher version: http://dx.doi.org/10.1042/BST20160156
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: 3D organoids, CEP290, cilia, induced pluripotent stem cells, photoreceptors, retinal degeneration
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/1532710
Downloads since deposit
109Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item