利用 CRISPR-Cas9 基因组编辑技术，生成携带 TYR c.575C>A（p.Ser192Tyr）和 c.1205G>A（p.Arg402Gln）杂合变异的人诱导多能干细胞系。
Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing.
机构信息
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
出版信息
Stem Cell Res. 2022 Oct;64:102880. doi: 10.1016/j.scr.2022.102880. Epub 2022 Jul 30.
TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced pluripotent stem cell (iPSC) line (WTSIi253-A-2) that carries both c.575C>A and c.1205G>A in homozygous state. The line expresses pluripotency markers and exhibits multi-lineage differentiation potential, providing a useful in vitro model for investigating albinism pathogenesis.
TYR 编码酪氨酸酶，该酶在黑色素细胞和视网膜色素上皮（RPE）中催化黑色素生物合成的第一步。TYR c.575C>A（p.Ser192Tyr）[rs1042602]和 c.1205G>A（p.Arg402Gln）[rs1126809]变体是常见的遗传变化，与多种色素沉着特征有关。值得注意的是，这两种错义变体纯合的个体易患白化病。在这里，我们使用 CRISPR-Cas9 技术生成了一个携带 c.575C>A 和 c.1205G>A 两种纯合状态的诱导多能干细胞（iPSC）系（WTSIi253-A-2）。该系表达多能性标记物，并表现出多谱系分化潜能，为研究白化病发病机制提供了有用的体外模型。
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