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Article

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

Biochemical Society transactions - 15 Oct 2016

Parfitt David A, Lane Amelia, Ramsden Conor, Jovanovic Katarina, Coffey Peter J, Hardcastle Alison J, Cheetham Michael E

Abstract excerpt

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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27911706
DOI: 10.1042/BST20160156
PMCID: PMC5238943

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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