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Updated: Dec 8, 2025

Generation of Mice Derived from Induced Pluripotent Stem Cells
Published on: November 29, 2012
Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy
Kee-Pyo Kim1, Juyong Yoon1, Johnny Kim2
1Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, Röntgenstrasse 20, Münster 48149, Germany.
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.
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