Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

Yen-Fu Cheng, Yen-Hui Chan, Chin-Ju Hu, Ying-Chang Lu, Tsubasa Saeki, Makoto Hosoya, Chika Saegusa, Masato Fujioka, Hideyuki Okano, Shih-Ming Weng, Chuan-Jen Hsu, Kuo-Hsuan Chang, Chen-Chi Wu

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chinese population and the second most prevalent one in other Asian countries. The established patient-derived iPSC displayed all the features of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype.

Original languageEnglish
Pages (from-to)101524
JournalStem Cell Research
Volume40
DOIs
Publication statusPublished - Oct 2019

Keywords

  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Female
  • Goiter, Nodular/genetics
  • Hearing Loss, Sensorineural/genetics
  • Humans
  • Induced Pluripotent Stem Cells/cytology
  • Karyotype
  • Leukocytes, Mononuclear/cytology
  • Polymorphism, Single Nucleotide
  • RNA Splice Sites/genetics
  • Sulfate Transporters/genetics

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