Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

Chun Ying Huang; Yi Hsiu Tsai; Yi Ching Tsai; Ying Chang Lu; Yen Hui Chan; Chuan Jen Hsu; Shih Hwa Chiou; Chen Chi Wu; Yen Fu Cheng

doi:10.1016/j.scr.2020.101795

Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

Chun Ying Huang, Yi Hsiu Tsai, Yi Ching Tsai, Ying Chang Lu, Yen Hui Chan, Chuan Jen Hsu, Shih Hwa Chiou, Chen Chi Wu^*, Yen Fu Cheng

^*Corresponding author for this work

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

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Abstract

Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the Asian population. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a hearing-impaired patient with homozygous GJB2 c.235delC mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of deafness caused by GJB2 mutations.

Original language	English
Article number	101795
Journal	Stem Cell Research
Volume	45
DOIs	https://doi.org/10.1016/j.scr.2020.101795
State	Published - May 2020

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title = "Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene",

abstract = "Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the Asian population. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a hearing-impaired patient with homozygous GJB2 c.235delC mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of deafness caused by GJB2 mutations.",

author = "Huang, {Chun Ying} and Tsai, {Yi Hsiu} and Tsai, {Yi Ching} and Lu, {Ying Chang} and Chan, {Yen Hui} and Hsu, {Chuan Jen} and Chiou, {Shih Hwa} and Wu, {Chen Chi} and Cheng, {Yen Fu}",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = may,

doi = "10.1016/j.scr.2020.101795",

language = "English",

volume = "45",

journal = "Stem Cell Research",

issn = "1873-5061",

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T1 - Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

AU - Huang, Chun Ying

AU - Tsai, Yi Hsiu

AU - Tsai, Yi Ching

AU - Lu, Ying Chang

AU - Chan, Yen Hui

AU - Hsu, Chuan Jen

AU - Chiou, Shih Hwa

AU - Wu, Chen Chi

AU - Cheng, Yen Fu

PY - 2020/5

Y1 - 2020/5

N2 - Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the Asian population. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a hearing-impaired patient with homozygous GJB2 c.235delC mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of deafness caused by GJB2 mutations.

AB - Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the Asian population. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a hearing-impaired patient with homozygous GJB2 c.235delC mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of deafness caused by GJB2 mutations.

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DO - 10.1016/j.scr.2020.101795

M3 - Article

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AN - SCOPUS:85085105110

SN - 1873-5061

VL - 45

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101795

ER -

Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

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