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

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

Research output: Contribution to journal › Article › peer-review

5 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 language	English
Pages (from-to)	101524
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101524
Publication status	Published - 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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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.",

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",

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

year = "2019",

month = oct,

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

language = "English",

volume = "40",

pages = "101524",

journal = "Stem Cell Research",

issn = "1873-5061",

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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, Chika

AU - Fujioka, Masato

AU - Okano, Hideyuki

AU - Weng, Shih-Ming

AU - Hsu, Chuan-Jen

AU - Chang, Kuo-Hsuan

AU - Wu, Chen-Chi

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.

KW - Cell Differentiation

KW - Cell Line

KW - Cellular Reprogramming

KW - Female

KW - Goiter, Nodular/genetics

KW - Hearing Loss, Sensorineural/genetics

KW - Humans

KW - Induced Pluripotent Stem Cells/cytology

KW - Karyotype

KW - Leukocytes, Mononuclear/cytology

KW - Polymorphism, Single Nucleotide

KW - RNA Splice Sites/genetics

KW - Sulfate Transporters/genetics

U2 - 10.1016/j.scr.2019.101524

DO - 10.1016/j.scr.2019.101524

M3 - Article

C2 - 31415960

SN - 1873-5061

VL - 40

SP - 101524

JO - Stem Cell Research

JF - Stem Cell Research

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

Abstract

Keywords

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