从一名携带复合杂合突变 p.Gly45Arg/p.His319Arg 的女性 FAHN 患者的成纤维细胞中生成人诱导多能干细胞系 AKOSi010-A。
Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg.
机构信息
Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.
Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany.
出版信息
Stem Cell Res. 2022 Aug;63:102863. doi: 10.1016/j.scr.2022.102863. Epub 2022 Jul 12.
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare childhood onset neurodegenerative disease caused by mutations in the FA2H gene. Patients display abnormal myelination, cerebellar atrophy and some have iron deposition in the central nervous system. Here we describe the generation of AKOSi010-A, a human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a female patient carrying the compound heterozygous p.Gly45Arg/p.His319Arg, using non-integrating Sendai virus. The generated iPSCs express pluripotency markers, can differentiate into cell types of the three germ layers and show a normal karyotype. This cell line displays a unique source to study the pathophysiology of FAHN.
脂肪酸羟化酶相关神经退行性变（FAHN）是一种罕见的儿童期起病的神经退行性疾病，由 FA2H 基因突变引起。患者表现出异常的髓鞘形成、小脑萎缩，部分患者中枢神经系统有铁沉积。在这里，我们描述了 AKOSi010-A 的产生，这是一种源自携带复合杂合 p.Gly45Arg/p.His319Arg 突变的女性患者成纤维细胞的人诱导多能干细胞（hiPSC）系，使用非整合性仙台病毒。生成的 iPSC 表达多能性标志物，可分化为三个胚层的细胞类型，并显示正常核型。该细胞系为研究 FAHN 的病理生理学提供了一个独特的来源。
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