Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome

Xiaoxuan Wang; Sen Zhang; Sang Hu; Hongen Xu; Qi Zhang; Wenxue Tang

doi:10.1016/j.scr.2021.102606

Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome

Stem Cell Res. 2021 Dec:57:102606. doi: 10.1016/j.scr.2021.102606. Epub 2021 Nov 25.

Authors

Xiaoxuan Wang¹, Sen Zhang², Sang Hu³, Hongen Xu², Qi Zhang⁴, Wenxue Tang⁵

Affiliations

¹ State Key Laboratory of Esophageal Cancer Prevention & Treatment, School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China.
² Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China.
³ School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China.
⁴ State Key Laboratory of Esophageal Cancer Prevention & Treatment, School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China; Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China. Electronic address: qizhang@zzu.edu.cn.
⁵ Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China. Electronic address: twx@zzu.edu.cn.

PMID: 34864221
DOI: 10.1016/j.scr.2021.102606

Abstract

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.