• Publications
  • Influence
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa
Hereditary retinal dystrophies, specifically retinitis pigmentosa (RP) are clinically and genetically heterogeneous diseases affecting primarily retinal cells and retinal pigment epithelial cellsExpand
  • 14
  • PDF
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is a photoreceptor-specific chaperone that stabilizes the effector enzyme of phototransduction, cGMP phosphodiesterase 6 (PDE6). MutationsExpand
  • 5
  • PDF
Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK.
The human induced pluripotent stem cell (hiPSC) line RP1-FiPS4F1 generated from the patient with autosomal recessive retinitis pigmentosa (arRP) caused by homozygous Ser331Cysfs*5 mutation in MerExpand
  • 6
Deciphering retinal diseases through the generation of three dimensional stem cell‐derived organoids: Concise Review
Three‐dimensional (3D) retinal organoids, in vitro tissue structures derived from self‐organizing cultures of differentiating human embryonic stem cells or induced pluripotent stem cells, couldExpand
  • 7
Generation of a human iPSC line by mRNA reprogramming.
The human iPSC cell line, derived from foreskin fibroblasts was generated by non-integrative, non-viral reprogramming technology using OCT4, SOX2, KLF4, LIN28, c-MYC mRNAs.
  • 9
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.
The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrativeExpand
  • 2
  • PDF
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbonExpand
  • 1
  • PDF
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration
Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is an early‐onset neurodegenerative disease that includes progressive cerebellar dysfunction. ARSACS is caused by an autosomalExpand