Generation of a human induced pluripotent stem cell line (MUi010-A) from skin fibroblast of patient carrying a c.2104C>T mutation in MYH9 gene

Stem Cell Res. 2019 Apr:36:101397. doi: 10.1016/j.scr.2019.101397. Epub 2019 Feb 18.

Abstract

Mutations in MYH9 gene is one of the major causes of inherited thrombocytopenia resulted from nonfunctional myosin-9 protein. We have generated a human induced pluripotent stem cell line MUi010-A from skin fibroblasts of a patient who had a point mutation c.2104C>T (p.R702C) in the exon 16 of MYH9 gene using a non-integrative reprogramming method. The MUi010-A exhibited embryonic stem cell-like characteristics with consistent pluripotent markers expression, was capable of all three embryonic germ layers differentiation, and had a normal karyotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line*
  • DNA Fingerprinting
  • Fibroblasts
  • Humans
  • Induced Pluripotent Stem Cells*
  • Karyotype
  • Male
  • Mice, Inbred BALB C
  • Myosin Heavy Chains / genetics*
  • Point Mutation
  • Skin
  • Thrombocytopenia / genetics

Substances

  • MYH9 protein, human
  • Myosin Heavy Chains