Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome

Summary

We generated PUMCi005-A, an induced pluripotent stem cell (iPSC) line, from dermal fibroblasts of a 32-year-old female Perrault syndrome patient with double heterozygous (794 G > A and 1181 G > A) mutations in the TWNK gene using Sendai viral delivery of OCT4, SOX2, KLF4, and c-MYC. The PUMCi005-A iPSC line carried the TWNK mutations, displayed typical iPSC morphology, expressed pluripotent stem cell markers, did not have integration of Sendai virus, and exhibited a normal karyotype and differentiation into three germ layers. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang YB, Lv YF, Zhang Y, Wang W
Journal Stem cell research
Publication Date 2024 Mar;75:103318
PubMed 38295749
DOI 10.1016/j.scr.2024.103318

Research Projects

Cell Lines