Academic Journal
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene
| العنوان: | Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene |
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| المؤلفون: | Clayton, Joshua, S, Scriba, Carolin, K, Romero, Norma, B, Malfatti, Edoardo, Saker, Safaa, Larmonier, Thierry, Nowak, Kristen, J, Ravenscroft, Gianina, Laing, Nigel, G, Taylor, Rhonda, L |
| المساهمون: | The University of Western Australia (UWA), Institut de Myologie, 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), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Généthon |
| المصدر: | ISSN: 1876-7753 ; Stem Cell Research ; https://hal.sorbonne-universite.fr/hal-03346073 ; Stem Cell Research, 2021, 55, pp.102482. ⟨10.1016/j.scr.2021.102482⟩. |
| بيانات النشر: | CCSD Elsevier |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology |
| الوصف: | International audience ; Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 10-year-old female with typical NM harbouring a dominant pathogenic variant in ACTA1 (c.541C>A). The isogenic lines displayed typical iPSC morphology, expressed pluripotency markers, and could differentiate into each of the three germ layers. Although the lines have partial or complete X chromosome duplication, they may still prove useful as models of human ACTA1 disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1016/j.scr.2021.102482 |
| الاتاحة: | https://hal.sorbonne-universite.fr/hal-03346073 https://hal.sorbonne-universite.fr/hal-03346073v1/document https://hal.sorbonne-universite.fr/hal-03346073v1/file/1-s2.0-S1873506121003299-main.pdf https://doi.org/10.1016/j.scr.2021.102482 |
| Rights: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.B9162C67 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.scr.2021.102482 |
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