Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations


Retinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. Skin fibroblasts were generated and reprogrammed by using a Sendai virus-based approach. The iPSC line had a normal karyotype, carried the two PDE6A mutations, expressed pluripotency markers and could generate endoderm, mesoderm and ectoderm in vitro. Resource table. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Riera M, Patel A, Corcostegui B, Chang S, Sparrow JR, Pomares E, Corneo B
Journal Stem cell research
Publication Date 2019 Mar;35:101385
PubMed 30685614
DOI 10.1016/j.scr.2019.101385

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