Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy

Stem Cell Res. 2020 Oct:48:101993. doi: 10.1016/j.scr.2020.101993. Epub 2020 Sep 13.

Abstract

Here we have generated a human induced pluripotent stem cells (hiPSC) line (MPIi007-A) from skin fibroblasts of a 4-year-old male Metachromatic leukodystrophy (MLD) patient with a heterozygous 1178C > G (Thr393Ser) mutation in arylsulfatase A (ARSA) gene via retroviral expression of OCT4, SOX2, KLF4 and c-MYC. The MPIi007-A iPSC line displayed typical embryonic stem cell-like morphology, carried the ARSA gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and were capable of forming teratomas containing three germ layers. The MPIi007-A line can be used for the characterization of MLD-associated pathomechanisms and developing new therapeutic options.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebroside-Sulfatase / genetics
  • Child, Preschool
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Leukodystrophy, Metachromatic* / genetics
  • Male
  • Mutation

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Cerebroside-Sulfatase