Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation

Pengjun Wang; Jingjing Wang; Yazhi Xing; Hui Wang; Dongzhen Yu; Yanmei Feng; Hongmin Wu; Yaqin Wu; Zhengnong Chen; Jiping Wang; Haibo Shi

doi:10.1016/j.scr.2020.101756

Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation

Stem Cell Res. 2020 Apr:44:101756. doi: 10.1016/j.scr.2020.101756. Epub 2020 Mar 7.

Authors

Affiliations

¹ Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai 200233, China.
² Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai 200233, China. Electronic address: [email protected].
³ Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai 200233, China; Shanghai Key Laboratory of Sleep Disordered Breathing, Shanghai 200233, China.

PMID: 32199281
DOI: 10.1016/j.scr.2020.101756

Abstract

Waardenburg syndrome (WS) is an inherited auditory-pigmentary syndrome characterized by deafness and pigment abnormalities. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of an 8-year-old boy affected with WS, caused by a novel mutation in the SOX10 gene (NM_006941.3: c.937_947del; p.Tyr313Argfs*85), with a concurrent hotspot mutation in the GJB2 gene (NM_004004.5:c.235delC; p.Leu79Cysfs*3). The expression of pluripotency markers of the iPSC cell line was verified at both the mRNA and protein levels and the pluripotency state of the cell line was demonstrated by the capability to differentiate into all three germ layers.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line*
Child
Connexin 26 / genetics*
Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Male
Mutation
SOXE Transcription Factors* / genetics
Waardenburg Syndrome* / genetics

Substances

GJB2 protein, human
SOX10 protein, human
SOXE Transcription Factors
Connexin 26