Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation

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

Stem Cell Research (Mar 2021)

Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation

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

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
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
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
Jie Ling: Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, China; Hunan Key Laboratory of Molecular Precision Medicine, Changsha, 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
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
Wei Gong: University of South China Affiliated Changsha Central Hospital, Changsha 410004, 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; Corresponding authors.
Yong Feng: Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; University of South China Affiliated Changsha Central Hospital, Changsha 410004, Hunan, China; Corresponding authors.

Journal volume & issue: Vol. 51
p. 102157

Abstract

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Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of a 4-year-old boy affected with WS type II, caused by a novel mutation in microphthalmia-associated transcription factor (MITF) (NM_000248.3: exon6:c.626A>T). The patient-specific iPSC line (CSUXHi003-A) carrying the same MITF mutation showed normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. It may be a useful tool for 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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