Stem Cell Research (Dec 2017)

Generation of an induced pluripotent stem cell line from a 39-year-old female patient with severe-to-profound non-syndromic sensorineural hearing loss and a A1555G mutation in the mitochondrial MTRNR1 gene

  • Yu-Hung Hsu,
  • Yu-Ting Wu,
  • Ching-Ying Huang,
  • Ming-Ching Ho,
  • Yu-Che Cheng,
  • Shih-Han Syu,
  • Huai-En Lu,
  • Yen-Chun Chen,
  • Chia-Ling Tsai,
  • Hung-Ching Lin,
  • Yau-Huei Wei,
  • Yi-Chao Hsu,
  • Patrick C.H. Hsieh

DOI
https://doi.org/10.1016/j.scr.2017.10.024
Journal volume & issue
Vol. 25, no. C
pp. 245 – 249

Abstract

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Sensorineural hearing loss (SNHL) is a prevalent form of deafness commonly arising from damage to the cochlear sensory hair cells and degeneration of the spiral ganglion neurons. In this study, Sendai virus was used to generate an induced pluripotent stem cell (iPSC) line from a 39-year-old female patient diagnosed with severe-to-profound, non-syndromic SNHL. The patient also carries a A1555G mutation in the mitochondrial 12S ribosome RNA gene (MTRNR1). This iPSC line was verified to express pluripotent markers, possess normal karyotype, harbor the specific mutation and demonstrated the capacity to differentiate into three germ layers.