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Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype.
Devito, Liani G; Cooper, Fay; D'Angelo, Ilenia; Smith, Jim; Healy, Lyn.
Afiliación
  • Devito LG; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: liani.devito@crick.ac.uk.
  • Cooper F; Centre for Stem Cell Biology, School of Bioscience, The University of Sheffield, Western Bank, Sheffield S10 2TN, UK; Neuroscience Institute, The University of Sheffield, Western Bank, Sheffield S10 2TN, UK.
  • D'Angelo I; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK.
  • Smith J; Developmental Biology Laboratory, The Francis Crick Institute, London, UK.
  • Healy L; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: lyn.healy@crick.ac.uk.
Stem Cell Res ; 65: 102954, 2022 12.
Article en En | MEDLINE | ID: mdl-36332468
Spinal muscular atrophy with lower extremity dominant (SMALED) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in lower limbs muscle weakness and paralysis. Mutations in DYNC1H1, which encodes BICD2, a multifunctional adaptor for microtubule motor proteins, cause the disorder. Here, we generated four induced pluripotent stem cell (iPSC) lines from patients with SMALED. Dermal fibroblasts were obtained from the MRC neuromuscular disease biobank and reprogrammed using non-integrating mRNA-based protocol. Characterization of the four iPSC lines included karyotyping and Sanger sequencing, while the expression of associated markers confirmed pluripotency and differentiation potential.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2022 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2022 Tipo del documento: Article