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

doi:10.1016/j.scr.2019.101524

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

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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 language	English
Article number	101524
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101524
Publication status	Published - 2019 Oct

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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10.1016/j.scr.2019.101524

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Cheng, Y. F., Chan, Y. H., Hu, C. J., Lu, Y. C., Saeki, T., Hosoya, M., Saegusa, C., Fujioka, M., Okano, H., Weng, S. M., Hsu, C. J., Chang, K. H., & Wu, C. C. (2019). Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation. Stem Cell Research, 40, [101524]. https://doi.org/10.1016/j.scr.2019.101524

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

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.",

author = "Cheng, {Yen Fu} and Chan, {Yen Hui} and Hu, {Chin Ju} and Lu, {Ying Chang} and Tsubasa Saeki and Makoto Hosoya and C. Saegusa and Masato Fujioka and Hideyuki Okano and Weng, {Shih Ming} and Hsu, {Chuan Jen} and Chang, {Kuo Hsuan} and Wu, {Chen Chi}",

note = "Funding Information: We thank National Taiwan University Hospital (NTUH.106-T04 and NTUH.107-T04), and Chang Gung Medical Foundation (CMRPG3H0982) for the grant support. We thank Ms. Yuka Hiroi for her technical support. This research was partially supported by grants to M.F. from the Japanese government MEXT KAKENHI (18H04065, 24592560, 26670748, 15H04991, and 15K15624) and the Translational Research Network Program from AMED. H.O. is a founding scientist and a paid member of the Scientific Advisory Board of San Bio Co. Ltd. Funding Information: We thank National Taiwan University Hospital ( NTUH.106-T04 and NTUH.107-T04 ), and Chang Gung Medical Foundation ( CMRPG3H0982 ) for the grant support. We thank Ms. Yuka Hiroi for her technical support. This research was partially supported by grants to M.F. from the Japanese government MEXT KAKENHI ( 18H04065 , 24592560 , 26670748 , 15H04991 , and 15K15624 ) and the Translational Research Network Program from AMED . Publisher Copyright: {\textcopyright} 2019",

year = "2019",

month = oct,

doi = "10.1016/j.scr.2019.101524",

language = "English",

volume = "40",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

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TY - JOUR

T1 - Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

AU - Cheng, Yen Fu

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

N1 - Funding Information: We thank National Taiwan University Hospital (NTUH.106-T04 and NTUH.107-T04), and Chang Gung Medical Foundation (CMRPG3H0982) for the grant support. We thank Ms. Yuka Hiroi for her technical support. This research was partially supported by grants to M.F. from the Japanese government MEXT KAKENHI (18H04065, 24592560, 26670748, 15H04991, and 15K15624) and the Translational Research Network Program from AMED. H.O. is a founding scientist and a paid member of the Scientific Advisory Board of San Bio Co. Ltd. Funding Information: We thank National Taiwan University Hospital ( NTUH.106-T04 and NTUH.107-T04 ), and Chang Gung Medical Foundation ( CMRPG3H0982 ) for the grant support. We thank Ms. Yuka Hiroi for her technical support. This research was partially supported by grants to M.F. from the Japanese government MEXT KAKENHI ( 18H04065 , 24592560 , 26670748 , 15H04991 , and 15K15624 ) and the Translational Research Network Program from AMED . Publisher Copyright: © 2019

PY - 2019/10

Y1 - 2019/10

N2 - 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.

AB - 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.

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DO - 10.1016/j.scr.2019.101524

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SN - 1873-5061

VL - 40

JO - Stem Cell Research

JF - Stem Cell Research

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ER -

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

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