Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Centre Rostock, 18147 Rostock, Germany.
Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Centre Rostock, 18057 Rostock, Germany.
Stem Cell Res. 2023 Sep;71:103178. doi: 10.1016/j.scr.2023.103178. Epub 2023 Aug 9.
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a hereditary neurodegenerative disease caused by mutations in the FA2H gene. Patients show a wide range of neurological symptoms and an abnormal myelination. Here we describe the generation of the human induced pluripotent stem cell (hiPSC) lines AKOSi011-A and AKOSi012-A, derived from FAHN-patient fibroblasts, carrying the compound heterozygous mutation p.Pro65Ser/p.Asp35Tyr and the homozygous mutation p.Tyr231His, respectively. The hiPSC lines were generated using a non-integrating Sendai virus. The obtained hiPSCs show an unobtrusive karyotype, carry the mutations of the original fibroblasts, express pluripotency markers and can differentiate into cells of the three germ layers.
脂肪酸羟化酶相关神经退行性疾病（FAHN）是一种由 FA2H 基因突变引起的遗传性神经退行性疾病。患者表现出广泛的神经症状和异常的髓鞘形成。在这里，我们描述了从携带复合杂合突变 p.Pro65Ser/p.Asp35Tyr 和纯合突变 p.Tyr231His 的 FAHN 患者成纤维细胞中产生的人类诱导多能干细胞（hiPSC）系 AKOSi011-A 和 AKOSi012-A。hiPSC 系是使用非整合性仙台病毒产生的。获得的 hiPSC 显示出不起眼的核型，携带原始成纤维细胞的突变，表达多能性标记物，并能分化为三个胚层的细胞。
