Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

Stem Cell Research - Tập 63 - Trang 102830 - 2022
Isabella S. Suleski1,2, Robert Smith1,2, Christina Vo1,2, Carolin K. Scriba1,2,3, Safaa Saker4, Thierry Larmonier4, Edoardo Malfatti5,6, Norma B. Romero7,8, Peter J. Houweling9,10, Kristen J. Nowak2,11,12, Nigel G. Laing1,2, Rhonda L. Taylor1,2, Joshua S. Clayton1,2
1Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia
2Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia
3Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia
4Genethon, DNA and Cell Bank, 91000 Evry, France
5APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France
6Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France
7Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France
8Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France
9Murdoch Children's Research Institute, Melbourne, Victoria, Australia
10Department of Pediatrics, University of Melbourne, Victoria, Australia
11Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia
12Faculty of Health and Medical Sciences, School of Biomedical Sciences, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia

Tài liệu tham khảo

Clayton, 2021, Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C>A (p.Arg183Ser) variant in the ACTA1 gene, Stem Cell Res., 53, 10.1016/j.scr.2021.102273 Laing, 2009, Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (ACTA1), Hum. Mutat., 30, 1267, 10.1002/humu.21059 Min, 2019, CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells, Sci. Adv., 5, eaav4324, 10.1126/sciadv.aav4324 Sewry, 2019, Nemaline myopathies: a current view, J. Muscle Res. Cell Motil., 40, 111, 10.1007/s10974-019-09519-9 Sparrow, 2003, Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1), Neuromuscul. Disord., 13, 519, 10.1016/S0960-8966(03)00101-9
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Stem Cell Research

Tập 63

102830

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