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, C. Saegusa, Masato Fujioka, Hideyuki Okano, Shih Ming Weng, Chuan Jen Hsu, Kuo Hsuan Chang, Chen Chi Wu

Research output: Contribution to journalArticle

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
Article number101524
JournalStem Cell Research
Volume40
DOIs
Publication statusPublished - 2019 Oct 1

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Induced Pluripotent Stem Cells
Cell Line
Mutation
Genes
Germ Layers
Pluripotent Stem Cells
Karyotype
Hearing Loss
Population
Pendred syndrome

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation. / Cheng, Yen Fu; Chan, Yen Hui; Hu, Chin Ju; Lu, Ying Chang; Saeki, Tsubasa; Hosoya, Makoto; Saegusa, C.; Fujioka, Masato; Okano, Hideyuki; Weng, Shih Ming; Hsu, Chuan Jen; Chang, Kuo Hsuan; Wu, Chen Chi.

In: Stem Cell Research, Vol. 40, 101524, 01.10.2019.

Research output: Contribution to journalArticle

Cheng, Yen Fu ; Chan, Yen Hui ; Hu, Chin Ju ; Lu, Ying Chang ; Saeki, Tsubasa ; Hosoya, Makoto ; Saegusa, C. ; Fujioka, Masato ; Okano, Hideyuki ; Weng, Shih Ming ; Hsu, Chuan Jen ; Chang, Kuo Hsuan ; Wu, Chen Chi. / Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation. In: Stem Cell Research. 2019 ; Vol. 40.
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AU - Chan, Yen Hui

AU - Hu, Chin Ju

AU - Lu, Ying Chang

AU - Saeki, Tsubasa

AU - Hosoya, Makoto

AU - Saegusa, C.

AU - Fujioka, Masato

AU - Okano, Hideyuki

AU - Weng, Shih Ming

AU - Hsu, Chuan Jen

AU - Chang, Kuo Hsuan

AU - Wu, Chen Chi

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