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Updated: Dec 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in
Xinsheng Chen1, Yang Yang1, Liqiong Luo2
1Department of Endocrinology, Tianyou Hospital, Wuhan University of Science and Technology, Wuhan, China.
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.
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