Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.

Original languageEnglish
Article number101714
Number of pages5
JournalStem Cell Research
Volume43
DOIs
StatePublished - Mar 2020

    Research areas

  • Dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, Induced pluripotent stem cells, Laminopathies

    Scopus subject areas

  • Developmental Biology
  • Cell Biology

ID: 53237662