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
| Autor: | Kristen J. Nowak, Edoardo Malfatti, Thierry Larmonier, Gianina Ravenscroft, Carolin K. Scriba, Safaa Saker, Norma B. Romero, Rhonda L. Taylor, Joshua S. Clayton, Nigel G. Laing |
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| Přispěvatelé: | The University of Western Australia (UWA), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Généthon, This work was supported by funding from an AFM Telethon Trampoline Grant (REF-21816) to Kristen Nowak, and A Foundation Building Strength Research Grant (ID-A3TR22, PI Nigel Laing). We also gratefully acknowledge funding from the Australian National Health and Medical Research Council, including a Principal Research Fellowship (APP1117510) to Nigel Laing and a Career Development Fellowship (APP1122952) to Gianina Ravenscroft., Gestionnaire, Hal Sorbonne Université, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre de Recherche en Myologie |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
MESH: Mutation QH301-705.5 MESH: Female [SDV]Life Sciences [q-bio] Induced Pluripotent Stem Cells Biology medicine.disease_cause Myopathies Nemaline MESH: Infant 03 medical and health sciences 0302 clinical medicine Nemaline myopathy medicine Humans Biology (General) Induced pluripotent stem cell Nemaline bodies Muscle Skeletal Gene Mutation Lymphoblast MESH: Actins / genetics MESH: Induced Pluripotent Stem Cells Skeletal muscle Infant Cell Biology General Medicine medicine.disease Congenital myopathy Molecular biology Actins 3. Good health [SDV] Life Sciences [q-bio] MESH: Humans 030104 developmental biology medicine.anatomical_structure MESH: Muscle Skeletal MESH: Myopathies Nemaline* / genetics Female 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research Stem Cell Research, Elsevier, 2021, 53, pp.102273. ⟨10.1016/j.scr.2021.102273⟩ Stem Cell Research, 2021, 53, pp.102273. ⟨10.1016/j.scr.2021.102273⟩ Stem Cell Research, Vol 53, Iss, Pp 102273-(2021) |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2021.102273⟩ |
| Popis: | International audience; AbstractNemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gene, ACTA1, cause approximately 25% of all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant variant in ACTA1 (c.553C > A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes. These lines could be useful models of human ACTA1 disease. |
| Databáze: | OpenAIRE |
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