{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Murdoch Children’s Research Institute, Parkville, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia",
    "Murdoch Children’s Research Institute, Parkville, Australia",
    "Faculty of Medicine, Nursing and Health Sciences, School of Translational Medicine, Monash University, Melbourne, VIC, Australia",
    "Murdoch 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."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Veronica Siew Leng Chng"
    },
    {
      "affs": [
        0
      ],
      "name": "Kayli C. Davies"
    },
    {
      "affs": [
        1
      ],
      "name": "Katerina Vlahos"
    },
    {
      "affs": [
        1
      ],
      "name": "Sara E. Howden"
    },
    {
      "affs": [
        0
      ],
      "name": "Kiymet Bozaoglu"
    },
    {
      "affs": [
        0
      ],
      "name": "Genevieve C. Thompson"
    },
    {
      "affs": [
        2
      ],
      "name": "Justin L. Read"
    },
    {
      "affs": [
        0
      ],
      "name": "Martin Delatycki"
    },
    {
      "affs": [
        3
      ],
      "name": "Paul J. Lockhart"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6n39vqntqjsza.bib",
  "cited_by": 0,
  "doi": "10.1016/j.scr.2026.104118",
  "fulltext_url": "http://www.sciencedirect.com/science/article/pii/S187350612600214X",
  "id": "6n39vqntqjsza",
  "issns": [
    "1873-5061",
    "1876-7753"
  ],
  "landing_url": "https://doi.org/10.1016/j.scr.2026.104118",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "QH301-705.5"
    ],
    [
      "openalex",
      "1312|Pluripotent Stem Cells Research"
    ]
  ],
  "openalex": "W7222704038",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-30",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/6n39vqntqjsza.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:44:31Z",
      "native_id": "5c08f7f07ab64e10871e1a6526861854",
      "source": "doaj",
      "url": "https://doi.org/10.1016/j.scr.2026.104118"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Pluripotent Stem Cells Research",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls",
  "title_text": "Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:44:31Z",
  "url": "https://research.draconitic.com/paper/6n39vqntqjsza",
  "venue": "Stem Cell Research",
  "versions": []
}