Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A

Stem Cell Res. 2023 Jun:69:103100. doi: 10.1016/j.scr.2023.103100. Epub 2023 Apr 17.

Abstract

Usher syndrome type 2A (USH2A) gene mutations have been identified as the most frequent genetic causes of hereditary deafness in Usher syndrome, and an effective treatment has yet to be established. The encoded protein, Usherin, is essential for the ankle link associated with extracellular connections between the stereocilia of inner ear hair cells. We report the generation of a patient-derived USH2A iPSC line with compound mutations c.1907_1912ATGTTT > TCACAG (p.D636V + V637T + C638G) and c.8328_8329delAA (p.L2276fs*12). The iPSC showed the expression of pluripotency markers, the ability to differentiate into three germ layers in vitro, and USH2A mutations with normal karyotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Extracellular Matrix Proteins / genetics
  • Extracellular Matrix Proteins / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation / genetics
  • Stereocilia / metabolism
  • Usher Syndromes* / genetics

Substances

  • USH2A protein, human
  • Extracellular Matrix Proteins

Supplementary concepts

  • Usher syndrome, type 2A