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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Kim KP, Yoon J, Kim J, Röpke A, Shin B, Wook Han D, Greber B, Schöler HR
Journal Stem cell research
Publication Date 2020 Oct;48:101993
PubMed 32950023
DOI 10.1016/j.scr.2020.101993

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