Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant.

Stem Cell Res

Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia. Electronic address:

Published: June 2025


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Article Abstract

Autosomal recessive Usher syndrome (USH) is the most common inherited deaf-blindness disease, affecting one in 30,000 people worldwide.Here, we established two lines of induced pluripotent stem cells (iPSC) from a 48-year-old male carrier of a heterozygous NM_022124.6: c.1515-12G > A mutation in the CDH23 gene associated with USH type 1D. The reprogrammed iPSC lines had a normal karyotype, expressed pluripotency markers and showed the ability to differentiate into the three major developmental layers during embryoid body differentiation.

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http://dx.doi.org/10.1016/j.scr.2025.103706DOI Listing

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