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Stem Cell Res ; 65: 102954, 2022 12.
Article in English | MEDLINE | ID: mdl-36332468

ABSTRACT

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.


Subject(s)
Induced Pluripotent Stem Cells , Muscular Atrophy, Spinal , Humans , Muscular Atrophy, Spinal/genetics , Muscular Atrophy
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