Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Khine Zaw, Elaine Y.M. Wong, Xiao Zhang, Dan Zhang, Shang Chih Chen, Jennifer A. Thompson, Tina Lamey, Terri McLaren, John N. De Roach, Steve D. Wilton, Sue Fletcher, Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan

Research output: Contribution to journalArticle

Abstract

Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.

Original languageEnglish
Article number102129
JournalStem Cell Research
Volume50
DOIs
Publication statusPublished - Jan 2021

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