Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

Stem Cell Res. 2018 Dec:33:151-155. doi: 10.1016/j.scr.2018.10.012. Epub 2018 Oct 5.

Abstract

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 hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated by Sendai virus reprogramming. The generated hiPSC line was free of Sendai virus genes, had stable karyotype, carried the homozygous mutation, was immunopositive to pluripotency markers and able to generate all three germ layers upon embryoid body formation. Resource table.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Carrier Proteins / genetics*
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Leber Congenital Amaurosis / genetics*
  • Mutation

Substances

  • AIPL1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Eye Proteins