Stem Cell Research (Sep 2023)

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12

  • I.O. Panchuk,
  • O.V. Grigorieva,
  • E.V. Kondrateva,
  • E.V. Kurshakova,
  • VYu. Tabakov,
  • I.O. Bychkov,
  • EYu. Zakharova,
  • M.D. Orlova,
  • E.S. Voronina,
  • V.O. Pozhitnova,
  • A.V. Lavrov,
  • S.A. Smirnikhina,
  • S.I. Kutsev

Journal volume & issue
Vol. 71
p. 103183

Abstract

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We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTune™-iPS 2.0 Sendai Reprogramming Kit. We verified variant c.808 T > G and insertion in GLB1 gene, as well as two mutations, c.6992 T > C and c.805C > T, in CDH23 gene which lead to autosomal recessive hearing loss type 12. We have demonstrated normal karyotype of hiPSCs and capacity for cell differentiation into three germ layers.

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