Chan, Yen-HuiYen-HuiChanTsai, Cheng-YuCheng-YuTsaiHo, Chang-HanChang-HanHoLu, Ying-ChangYing-ChangLuPEI-HSUAN LINTA-CHING CHENYOU-TZUNG CHENHuang, Cheng-YenCheng-YenHuangTIEN-CHEN LIUHsu, Chuan-JenChuan-JenHsuCHEN-CHI WU2023-06-292023-06-292023-0618735061https://scholars.lib.ntu.edu.tw/handle/123456789/633255Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the WFS1 pathogenic variant c.2051C > T (p.Ala684Val). The resulting induced pluripotent stem cells exhibited a normal karyotype and pluripotency, as confirmed using immunofluorescence staining, and differentiated into three germ layers in vivo. This cellular model provides a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to WFS1 variants.en[SDGs]SDG3journal article10.1016/j.scr.2023.103068369333592-s2.0-85150230975https://api.elsevier.com/content/abstract/scopus_id/85150230975