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