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.

在这里，我们从4岁男性变色性白细胞营养不良（MLD）患者的皮肤成纤维细胞中产生了人诱导的多能干细胞（hiPSC）系（MPIi007-A），该患者的杂合硫酸酯酶A（1178C> G（Thr393Ser）杂合ARSA）基因通过OCT4，SOX2，KLF4和c-MYC的逆转录病毒表达。MPIi007-A iPSC品系表现出典型的胚胎干细胞样形态，携带ARSA基因突变，表达了几种多能干细胞制造者，保留了正常的核型（46，XY），并能够形成包含三个胚层的畸胎瘤。MPIi007-A系列可用于表征与MLD相关的病理机制并开发新的治疗选择。