An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in the SLC26A4 gene

Xinsheng Chen; Yang Yang; Liqiong Luo; Lijuan Xu; Bei Liu; Gaofeng Jiang; Xiamin Hu; Yan Zeng; Zhenyu Wang

doi:10.1016/j.scr.2020.101919

An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in the SLC26A4 gene

Stem Cell Res. 2020 Jul 20:47:101919. doi: 10.1016/j.scr.2020.101919. Online ahead of print.

Authors

Xinsheng Chen¹, Yang Yang², Liqiong Luo³, Lijuan Xu⁴, Bei Liu⁵, Gaofeng Jiang⁶, Xiamin Hu⁷, Yan Zeng⁷, Zhenyu Wang⁷

Affiliations

¹ Department of Endocrinology, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, China. Electronic address: Chennewwin@aliyun.com.
² Department of Endocrinology, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, China.
³ Department of Oncology, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, China.
⁴ Department of Otolaryngology, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, China.
⁵ Department of Pathology, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, China.
⁶ Center for Translation Medicine, Wuhan University of Science and Technology, Wuhan, China.
⁷ Medical College of Wuhan University of Science and Technology, Wuhan, China.

PMID: 32717573
DOI: 10.1016/j.scr.2020.101919

Abstract

Pendred syndrome (PDS) is hereditary and is characterized by thyroid enlargement, cochlea abnormalities, and hearing impairment. In this study, we established an induced pluripotent stem cell line from a PDS patient with familial thyroid disorder, caused by compound heterozygous mutations in SLC26A4 (NM_000441.1; c.919-2A>G and c.1614 + 1G>A). Isolated peripheral blood mononuclear cells of the patient were reprogrammed using the transgene free Sendai viral vectors, encoding SOX2, OCT4, KLF4, and cMYC. The resulting iPSC line was verified based on morphology, pluripotency markers, and differentiation potential into all three germ layers, and demonstrated typical features in accordance with those of embryo stem cells.