Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA.
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA.
Stem Cell Res. 2021 Jul;54:102435. doi: 10.1016/j.scr.2021.102435. Epub 2021 Jun 18.
Loss-of-function mutations in Na+/H + exchanger 6 (NHE6) (also termed SLC9A6) cause the X-linked neurogenetic disorder Christianson syndrome (CS). Using peripheral blood mononuclear cells, we developed induced pluripotent stem cell (iPSC) lines from a patient with the NHE6 nonsense mutation c.1569G > A (p.(W523X)) and diagnosed with CS and from a biologically-related control. Using CRISPR/Cas9 gene editing, we generated two isogenic control lines in which the c.1569G > A mutation was corrected. All lines were verified by DNA sequencing and for NHE6 protein expression, pluripotency, and differentiation potential. These lines will serve as a valuable resource for both basic and translational studies in CS.
钠离子/氢 离子交换器 6（NHE6）（也称为 SLC9A6）功能丧失突变导致 X 连锁神经遗传疾病克里斯蒂安森综合征（CS）。我们使用外周血单核细胞，从一位患有 NHE6 无义突变 c.1569G > A（p.（W523X））的患者和一位被诊断为 CS 的具有生物学相关性的对照中开发了诱导多能干细胞（iPSC）系。使用 CRISPR/Cas9 基因编辑，我们生成了两条具有相同遗传背景的对照系，其中 c.1569G > A 突变得到了纠正。所有系均通过 DNA 测序和 NHE6 蛋白表达、多能性和分化潜能进行了验证。这些系将成为 CS 基础和转化研究的宝贵资源。
