Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation

Jie Wen; Chufeng He; Yong Feng; Jian Song; Jing Liu; Xianlin Liu; Lingyun Mei; Jie Ling; Hongsheng Chen; Yalan Liu

Stem Cell Research (May 2021)

Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation

Jie Wen,
Chufeng He,
Yong Feng,
Jian Song,
Jing Liu,
Xianlin Liu,
Lingyun Mei,
Jie Ling,
Hongsheng Chen,
Yalan Liu

Affiliations

Jie Wen: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Chufeng He: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Yong Feng: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Changsha Central Hospital affiliated to University of South China, Changsha 410004, China
Jian Song: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Jing Liu: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Xianlin Liu: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Lingyun Mei: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Jie Ling: Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, China; Hunan Key Laboratory of Molecular Precision Medicine, Changsha, China
Hongsheng Chen: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
Yalan Liu: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China; Corresponding author at: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China.

Journal volume & issue: Vol. 53
p. 102300

Abstract

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Waardenburg Syndrome (WS) is a common autosomal dominant syndrome associated with hearing loss. Its clinical manifestations include hearing impairment and pigmentation anomalies. In this study, we generated an induced pluripotent stem cell (iPSC) line from the Epstein–Barr virus-immortalized B lymphocytes of a 6-year-old boy affected with WS type I, caused by a heterozygous splice site mutation in the PAIRED BOX GENE 3 (PAX3) (NM_181457.3: c.452-2A > G). The patient-specific iPSC line (CSUXHi004-A) carrying the same PAX3 mutation showed a normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. This method may be a useful tool for the in vitro modeling of WS.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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