Single-cell RNA-seq of NMNAT1 knockout (NMNAT1KO) human induced pluripotent stem cell (hiPSC)-derived retinal organoid

Nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) is one of causative genes of Leber congenital amaurosis (LCA), an inherited retinal degeneration that appears at birth. We previously revealed that Nmnat1 has essential roles for retinal progenitor cell survival during mouse retinal development. To understand roles of NMNAT1 during human retinal development, NMNAT1KO hiPSC was established and used for induction of retinal organoid. Here we performed single-cell RNA-seq to examine what kind of changes in cell type composition occurred in normal and NMNAT1KO groups during retinal organoid development.

烟酰胺单核苷酸腺苷酰转移酶1（Nicotinamide mononucleotide adenylyltransferase 1, NMNAT1）是莱伯先天性黑蒙（Leber congenital amaurosis, LCA）的致病基因之一，后者是一种出生即发病的遗传性视网膜变性疾病。我们前期研究揭示，在小鼠视网膜发育过程中，Nmnat1对视网膜祖细胞的存活发挥关键作用。为阐明NMNAT1在人类视网膜发育中的功能，我们构建了NMNAT1敲除的人类诱导多能干细胞（human induced pluripotent stem cell, hiPSC），并将其用于视网膜类器官的诱导构建。本研究通过单细胞RNA测序（single-cell RNA-seq），分析正常组与NMNAT1敲除组在视网膜类器官发育过程中细胞类型组成的变化情况。