Work

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

Year: 2025

Type: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103706

Authors: Khine Zaw, Milan Fernando, Dan Zhang, Shang-Chih Chen, Livia S Carvalho, Anai Gonzalez-Cordero, Tina M Lamey, Jennifer A Thompson, Terri L McLaren, Fred K Chen, Samuel McLenachan

Institutions: Lions Eye Institute, The University of Sydney, Children's Medical Research Institute, The University of Melbourne, The University of Western Australia, Sir Charles Gairdner Hospital, Royal Perth Hospital, Perth Children's Hospital

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360

Funders: Channel 7 Telethon Trust, McCusker Charitable Foundation, Stan Perron Charitable Foundation, National Health and Medical Research Council, Department of Jobs, Tourism, Science and Innovation, Government of Western Australia, Western Australian Future Health and Innovation Fund, Government of Western Australia

Awards: Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases, G4054048745, G919012773

OpenAlex ID: W4409051670

FWCI:

Cites: 1

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Related to: 10