Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant
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.
Authors
- Lívia S. Carvalho (ORCID: https://orcid.org/0000-0002-3909-5778)
- Khine Zaw (ORCID: https://orcid.org/0000-0002-4121-1985)
- Terri L. McLaren (ORCID: https://orcid.org/0000-0003-3195-669X)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Shang‐Chih Chen (ORCID: https://orcid.org/0000-0002-5746-6982)
- Tina M. Lamey (ORCID: https://orcid.org/0000-0002-4608-4073)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Samuel McLenachan (ORCID: https://orcid.org/0000-0001-5732-7387)
- Dan Zhang (ORCID: https://orcid.org/0000-0003-1728-9069)
- Milan Fernando
- Anai Gonzalez-Cordero
Institutions
- Lions Eye Institute (AU)
- The University of Sydney (AU)
- Children's Medical Research Institute (AU)
- The University of Western Australia (AU)
- Sir Charles Gairdner Hospital (AU)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1016/j.scr.2025.103706
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00