Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation at the exon/intron 14 boundary of the COL6A1 gene to induced pluripotent stem cells (iPSCs). Using CRISPR/Cas9 gene editing, we corrected the mutation to generate an isogenic control line. Both the patient and isogenic control iPSCs show a normal karyotype, express pluripotency markers and can differentiate into cell states that represent the three embryonic germ layers (endoderm, mesoderm and ectoderm). These cell lines will be differentiated and used to explore disease mechanisms and evaluate novel therapeutics for Bethlem myopathy.
Authors
- Avnika A. Ruparelia (ORCID: https://orcid.org/0000-0002-1012-0079)
- Eppie M. Yiu (ORCID: https://orcid.org/0000-0001-6704-8402)
- Kathryn N. North (ORCID: https://orcid.org/0000-0003-0841-8009)
- Chantal A. Coles (ORCID: https://orcid.org/0000-0001-9774-4089)
- Shireen R. Lamandé (ORCID: https://orcid.org/0000-0003-2938-2711)
- Peter J. Houweling (ORCID: https://orcid.org/0000-0001-6132-2554)
- Peter D. Currie (ORCID: https://orcid.org/0000-0001-8874-8862)
- Sara E. Howden (ORCID: https://orcid.org/0000-0002-9008-9189)
- Robin Forbes
- Katerina Vlahos
- Kiymet Bozaoglu
- Vanessa Crossman
- Chrystal F. Tiong
Institutions
- Royal Children's Hospital (AU)
- Australian Regenerative Medicine Institute (AU)
- Murdoch Children's Research Institute (AU)
- Monash University (AU)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-02-06
- DOI
- https://doi.org/10.1016/j.scr.2025.103673
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00