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 edi...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000236 |
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| author | Vanessa G. Crossman Chrystal F. Tiong Chantal A. Coles Kiymet Bozaoglu Robin Forbes Eppie M. Yiu Avnika A. Ruparelia Peter D. Currie Katerina Vlahos Sara E Howden Kathryn N. North Shireen R. Lamandé Peter J. Houweling |
| author_facet | Vanessa G. Crossman Chrystal F. Tiong Chantal A. Coles Kiymet Bozaoglu Robin Forbes Eppie M. Yiu Avnika A. Ruparelia Peter D. Currie Katerina Vlahos Sara E Howden Kathryn N. North Shireen R. Lamandé Peter J. Houweling |
| author_sort | Vanessa G. Crossman |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2d6a06b879ff4efd90d1766197f8ae51 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-2d6a06b879ff4efd90d1766197f8ae512025-08-20T02:52:23ZengElsevierStem Cell Research1873-50612025-04-018410367310.1016/j.scr.2025.103673Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patientVanessa G. Crossman0Chrystal F. Tiong1Chantal A. Coles2Kiymet Bozaoglu3Robin Forbes4Eppie M. Yiu5Avnika A. Ruparelia6Peter D. Currie7Katerina Vlahos8Sara E Howden9Kathryn N. North10Shireen R. Lamandé11Peter J. Houweling12Murdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, Australia; Royal Children’s Hospital, Melbourne, Victoria, AustraliaCentre for Muscle Research, The University of Melbourne, Victoria, Australia; Australian Regenerative Medicine Institute, Monash University, Clayton, AustraliaAustralian Regenerative Medicine Institute, Monash University, Clayton, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, Australia; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506125000236 |
| spellingShingle | Vanessa G. Crossman Chrystal F. Tiong Chantal A. Coles Kiymet Bozaoglu Robin Forbes Eppie M. Yiu Avnika A. Ruparelia Peter D. Currie Katerina Vlahos Sara E Howden Kathryn N. North Shireen R. Lamandé Peter J. Houweling Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient Stem Cell Research |
| title | Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient |
| title_full | Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient |
| title_fullStr | Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient |
| title_full_unstemmed | Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient |
| title_short | Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient |
| title_sort | generation of an ipsc line with isogenic control from the pbmcs of a col6a1 c 1056 2t a bethlem myopathy patient |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000236 |
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