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Article

Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa.

Stem cell research - 1 May 2017

Sharma Tasneem P, Wiley Luke A, Whitmore S Scott, Anfinson Kristin R, Cranston Cathryn M, Oppedal Douglas J, Daggett Heather T, Mullins Robert F, Tucker Budd A, Stone Edwin M

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous group of monogenic disorders characterized by progressive death of the light-sensing photoreceptor cells of the outer neural retina. We recently identified novel hypomorphic mutations in the tRNA Nucleotidyl Transferase, CCA-Adding 1 (TRNT1) gene that cause early-onset RP. To model this disease in vitro, we generated patient-specific iPSCs and iPSC-derived retinal...

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Autophagosomes
Autophagy
Lysosomal Membrane Proteins
Microtubule-Associated Proteins
Nucleotidyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinitis Pigmentosa

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Identifiers

PMID: 28390992
DOI: 10.1016/j.scr.2017.03.005

Genes

TRNT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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