Peer-reviewedCC BYStem Cell Research
Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls
4 affiliations
- 1Murdoch Children’s Research Institute, Parkville, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia
- 2Murdoch Children’s Research Institute, Parkville, Australia
- 3Faculty of Medicine, Nursing and Health Sciences, School of Translational Medicine, Monash University, Melbourne, VIC, Australia
- 4Murdoch Children’s Research Institute, Parkville, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Corresponding author at: Murdoch Children’s Research Institute, 50 Flemington Road Parkville, Victoria 3052, Australia.
Abstract
Spinocerebellar Ataxia 27B (SCA27B) is a late-onset neurodegenerative disorder caused by a heterozygous pathogenic GAA•TTC repeat expansion in intron 1 of FGF14 . Despite being a common genetic cause of adult-onset cerebellar ataxia, the underlying molecular mechanisms remain unclear. Here, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate four induced pluripotent stem cell (iPSC) lines and their respective isogenic gene-corrected controls. All lines exhibited normal karyotypes, pluripotency, and trilineage differentiation capacity. These paired iPSC lines provide a valuable platform for investigating the pathomechanism(s) of SCA27B and can be used for screening of potential therapeutic treatments.
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BibTeX
@article{chng2026generation,
title = {{Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls}},
author = {Veronica Siew Leng Chng and Kayli C. Davies and Katerina Vlahos and Sara E. Howden and Kiymet Bozaoglu and Genevieve C. Thompson and Justin L. Read and Martin Delatycki and Paul J. Lockhart},
journal = {Stem Cell Research},
year = {2026},
month = oct,
doi = {10.1016/j.scr.2026.104118},
url = {https://doi.org/10.1016/j.scr.2026.104118},
note = {CC BY},
}
RIS
TY - JOUR
TI - Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls
AU - Veronica Siew Leng Chng
AU - Kayli C. Davies
AU - Katerina Vlahos
AU - Sara E. Howden
AU - Kiymet Bozaoglu
AU - Genevieve C. Thompson
AU - Justin L. Read
AU - Martin Delatycki
AU - Paul J. Lockhart
PY - 2026
DA - 2026/10/30
JO - Stem Cell Research
DO - 10.1016/j.scr.2026.104118
UR - https://doi.org/10.1016/j.scr.2026.104118
AB - Spinocerebellar Ataxia 27B (SCA27B) is a late-onset neurodegenerative disorder caused by a heterozygous pathogenic GAA•TTC repeat expansion in intron 1 of FGF14 . Despite being a common genetic cause of adult-onset cerebellar ataxia, the underlying molecular mechanisms remain unclear. Here, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate four induced pluripotent stem cell (iPSC) lines and their respective isogenic gene-corrected controls. All lines exhibited normal karyotypes, pluripotency, and trilineage differentiation capacity. These paired iPSC lines provide a valuable platform for investigating the pathomechanism(s) of SCA27B and can be used for screening of potential therapeutic treatments.
SN - 1873-5061
SN - 1876-7753
ER -