Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene

Stem Cell Res. 2019 Oct:40:101569. doi: 10.1016/j.scr.2019.101569. Epub 2019 Sep 4.

Abstract

Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related with this vision disorder. Skin fibroblasts from a patient with incomplete ACHM were reprogrammed to iPSCs by the non-integrative Sendai-virus method. Finally, the iPSC line has been characterized expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Differentiation
  • Cell Line / cytology*
  • Cell Line / metabolism
  • Cells, Cultured
  • Color Vision Defects / genetics*
  • Color Vision Defects / metabolism
  • Color Vision Defects / physiopathology
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics*
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / metabolism
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / metabolism
  • Genetic Diseases, X-Linked / physiopathology
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / cytology
  • Induced Pluripotent Stem Cells / metabolism*
  • Male
  • Mutation

Substances

  • Eye Proteins
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6C protein, human

Supplementary concepts

  • Achromatopsia incomplete, X-linked