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Article

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

Stem cell research - 1 Mar 2024

Wang Yi-Bo, Lv Ya-Feng, Zhang Ye, Wang Wei

Abstract excerpt

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...

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Identifiers

PMID: 38295749
DOI: 10.1016/j.scr.2024.103318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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