Abstract：
Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the POLR3A gene, which encodes one of the subunits forming the catalytic core of RNA polymerase III (PolIII). The disease also presents non-neurological signs such as hypodontia and hypogonadotropic hypogonadism. Here, we report the generation of a human induced pluripotent stem cell (hiPSC) line from fibroblasts of the first identified carrier of the biallelic POLR3A variants c.1802 T > A and c.4072G > A.
摘要：
低髓鞘化脑白质营养不良(HLD)是一组异质性遗传疾病,其特征在于脑发育过程中髓鞘沉积的缺陷。具体来说,4H-白细胞营养不良是一种隐性疾病，由于POLR3A基因的双等位基因突变，其编码形成RNA聚合酶III(PolIII)的催化核心的亚基之一。该疾病还呈现非神经学体征,例如低体和低促性腺激素性腺功能减退。这里,我们报道了从双等位基因POLR3A变体c.1802T>A和c.4072G>A的第一个鉴定载体的成纤维细胞产生人诱导多能干细胞（hiPSC）系。
