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

Stem Cell Research (Dec 2021)

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

Affiliations

Xiaoxuan Wang: State Key Laboratory of Esophageal Cancer Prevention & Treatment, School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China
Sen Zhang: Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China
Sang Hu: School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China
Hongen Xu: Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China
Qi Zhang: 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; Corresponding authors at: State Key Laboratory of Esophageal Cancer Prevention & Treatment, School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China.
Wenxue Tang: 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; Corresponding authors at: State Key Laboratory of Esophageal Cancer Prevention & Treatment, School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China.

Journal volume & issue: Vol. 57
p. 102606

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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