Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient

Academic Article

Abstract

  • Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test.
  • Authors

    Published In

  • Stem Cell Research  Journal
  • Digital Object Identifier (doi)

    Author List

  • Liu Z; Zhao R
  • Start Page

  • 289
  • End Page

  • 291
  • Volume

  • 17
  • Issue

  • 2