Additional clones from this iPS cell line (JFRBi1, JFRBi2, JFRBi4 and JFRBi5) are available from WiCell.

  • Cell Line Alias 01457
  • Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Male
  • Age at Collection 48 Years
  • Reprogramming Method Non-Integrating - Episomal Plasmid > Non-Integrating (Episomal Plasmid: Oct4, Klf4, Sox2, L-Myc, Nanog, Lin28, SV40LT)
  • Tissue Origin Blood / PBMC > Blood
  • Genetic Alteration Mutation Information c.5946+1G>Ac.5497G>T; p.Glu1833X
  • Diagnosis Information Limb-Girdle Muscular Dystrophy, LGMD2B was physican reported. Age of onset (i.e. muscle weakness) 20 years.
  • Disease Limb-Girdle Muscular Dystrophy, LGMD2B
  • Ethnicity Caucasian
  • Genetic Alteration Mutation DYSF (heterozygous 2 mutations)
  • Provider Jain Foundation
  • Collections
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