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

摘要

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.919-2AG and c.1614?+?1GA). 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.