Evidence map›Paper›PMID 23991284›Full record

ArticleeLife2013

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.

Budd A Tucker, Robert F Mullins, Luan M Streb, Kristin Anfinson, Mari E Eyestone, Emily Kaalberg, Megan J Riker, Arlene V Drack, Terry A Braun, Edwin M Stone

Open access · goldAbstract read
In one paragraph

Article in eLife, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
123citing papers in PubMed, 2 pooled it
8.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

123 citing papers in PubMed, 2 syntheses or guidelines pooled it, 207 citations in OpenAlex.

  1. Pooled it
  2. [Stem cell therapy for retinal diseases].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2015
    Pooled it
  3. Review
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  13. A highly reproducible and efficient method for retinal organoid differentiation from human pluripotent stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
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  20. Bifunctional MXene-Augmented Retinal Progenitor Cell Transplantation for Retinal Degeneration.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023
    Article

63 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

Budd A TuckerDepartment of Ophthalmology and Visual Sciences , University of Iowa Carver College of Medicine , Iowa City , United States.
Robert F Mullins
Luan M Streb
Kristin Anfinson
Mari E Eyestone
Emily Kaalberg
Megan J Riker
Arlene V Drack
Terry A Braun
Edwin M Stone
University of Iowa · US

Funding

Development of a cell replacement therapy to treat retinal degenerative blindnessDP2OD007483 · OD · UNIVERSITY OF IOWA · PI TUCKER, BUDD A · 2010 to 2010
$2.3M
Choriocapillaris Activation in Macular DegenerationR01EY017451 · NEI · UNIVERSITY OF IOWA · PI MULLINS, ROBERT FOSTER · 2007 to 2011
$1.8M
NEI NIH HHS EY017451NEI NIH HHS R01 EY017451NIH HHS DP2 OD007483
6 · The paper itself

Abstract

Next-generation and Sanger sequencing were combined to identify disease-causing USH2A mutations in an adult patient with autosomal recessive RP. Induced pluripotent stem cells (iPSCs), generated from the patient's keratinocytes, were differentiated into multi-layer eyecup-like structures with features of human retinal precursor cells. The inner layer of the eyecups contained photoreceptor precursor cells that expressed photoreceptor markers and exhibited axonemes and basal bodies characteristic of outer segments. Analysis of the USH2A transcripts of these cells revealed that one of the patient's mutations causes exonification of intron 40, a translation frameshift and a premature stop codon. Western blotting revealed upregulation of GRP78 and GRP94, suggesting that the patient's other USH2A variant (Arg4192His) causes disease through protein misfolding and ER stress. Transplantation into 4-day-old immunodeficient Crb1 (-/-) mice resulted in the formation of morphologically and immunohistochemically recognizable photoreceptor cells, suggesting that the mutations in this patient act via post-developmental photoreceptor degeneration. DOI:http://dx.doi.org/10.7554/eLife.00824.001.

Indexed as

AnimalsBlotting, WesternCell DifferentiationCodon, TerminatorEndoplasmic Reticulum Chaperone BiPHumansInduced Pluripotent Stem CellsMiceMice, KnockoutMutationNerve Tissue ProteinsPhotoreceptor Cells, VertebrateRetinitis PigmentosaCodon, TerminatorCrb1 protein, mouseEndoplasmic Reticulum Chaperone BiPHSPA5 protein, humanHspa5 protein, mouseNerve Tissue ProteinsHumaninduced pluripotent stem cellsMousenext-generation sequencingretinal cell differentiationretinal degenerationretinal transplantationretinitis pigmentosa

Identifiers

PMID23991284
PMCPMC3755341
OpenAlexW2086599623

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.