Waardenburg syndrome type I (WS1) is a human autosomal dominant genetic disease characterized by sensorineural hearing loss, pigmentary abnormalities, and dystopia canthorum. In this study, we generated an induced pluripotent stem cell (iPSC) line using non-integrative Sendai viral reprogramming technology from the peripheral blood mononuclear cells (PBMCs) of a 29-year-old woman affected with WS1, caused by a heterozygous frameshift mutation in the PAX3 (NM_181459.4:c.123del). This iPSC line carrying the same mutation displays a nomal karyotype, expresses pluripotent markers, and shows differentiation capacity in vitro.
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| http://dx.doi.org/10.1016/j.scr.2021.102606 | DOI Listing |
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