Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines

K. R. Valetdinova, M. A. Maretina, M. L. Kuranova, E. V. Grigor'eva, Y. M. Minina, E. A. Kizilova, A. V. Kiselev, S. P. Medvedev, V. S. Baranov, S. M. Zakian

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6 Citations (Scopus)

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrating episomal plasmid vectors. The resulting iPSCs are episomal-free, express pluripotency markers, display a normal karyotype, retain the mutation (homozygous deletion of SMN1) and are able to differentiate into the three germ layers.

Original languageEnglish
Article number101376
Number of pages5
JournalStem Cell Research
Volume34
DOIs
Publication statusPublished - 1 Jan 2019

Keywords

  • BLOOD
  • Cell Line
  • Cell Culture Techniques/methods
  • Humans
  • Adult
  • Induced Pluripotent Stem Cells/pathology
  • Child
  • Muscular Atrophy, Spinal/pathology

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