iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decre...
iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function
About this item
Full title
Author / Creator
Eade, Kevin T. , Ansell, Brendan Robert E. , Giles, Sarah , Fallon, Regis , Harkins-Perry, Sarah , Nagasaki, Takayuki , Tzaridis, Simone , Wallace, Martina , Mills, Elizabeth A. , Farashi, Samaneh , Johnson, Alec , Sauer, Lydia , Hart, Barbara , Diaz-Rubio, M. Elena , Bahlo, Melanie , Metallo, Christian , Allikmets, Rando , Gantner, Marin L. , Bernstein, Paul S. and Friedlander, Martin
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Patient-derived induced pluripotent stem cells (iPSCs) provide a powerful tool for identifying cellular and molecular mechanisms of disease. Macular telangiectasia type 2 (MacTel) is a rare, late-onset degenerative retinal disease with an extremely heterogeneous genetic architecture, lending itself to the use of iPSCs. Whole-exome sequencing screen...
Alternative Titles
Full title
iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function
Authors, Artists and Contributors
Author / Creator
Ansell, Brendan Robert E.
Giles, Sarah
Fallon, Regis
Harkins-Perry, Sarah
Nagasaki, Takayuki
Tzaridis, Simone
Wallace, Martina
Mills, Elizabeth A.
Farashi, Samaneh
Johnson, Alec
Sauer, Lydia
Hart, Barbara
Diaz-Rubio, M. Elena
Bahlo, Melanie
Metallo, Christian
Allikmets, Rando
Gantner, Marin L.
Bernstein, Paul S.
Friedlander, Martin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c36953378fea49618ef3b23be50c87cb
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c36953378fea49618ef3b23be50c87cb
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI163771
