Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient.

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Title: Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient.
Authors: Crossman VG; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Tiong CF; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Coles CA; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, Australia., Bozaoglu K; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Forbes R; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Yiu EM; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, Australia; Royal Children's Hospital, Melbourne, Victoria, Australia., Ruparelia AA; Centre for Muscle Research, The University of Melbourne, Victoria, Australia; Australian Regenerative Medicine Institute, Monash University, Clayton, Australia., Currie PD; Australian Regenerative Medicine Institute, Monash University, Clayton, Australia., Vlahos K; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Howden SE; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., North KN; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, Australia., Lamandé SR; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Houweling PJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, The University of Melbourne, Victoria, Australia. Electronic address: Peter.houweling@mcri.edu.au.
Source: Stem cell research [Stem Cell Res] 2025 Apr; Vol. 84, pp. 103673. Date of Electronic Publication: 2025 Feb 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1876-7753
DOI:10.1016/j.scr.2025.103673