利用 CRISPR/Cas9 技术在 GCDH 中生成携带双等位基因突变（SCTCi019-A）的诱导多能干细胞系。
Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9.
机构信息
Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
出版信息
Stem Cell Res. 2023 Jun;69:103069. doi: 10.1016/j.scr.2023.103069. Epub 2023 Mar 15.
GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1). In this study CRISPR/Cas9 technology was used to create an isogenic GCDH knock-out human iPSC line. One clone with a biallelic deletion (SCTCi019-A) in GCDH was obtained and fully characterized, revealing a normal karyotype, no off-targets detected and expression of pluripotency markers. This iPSC line can contribute to gain insights in the molecular mechanism of disease.
GCDH 编码催化赖氨酸分解代谢途径第六步的酶。GCDH 中的双等位致病性变异与 1 型戊二酸血症（GA1）有关。在这项研究中，使用 CRISPR/Cas9 技术创建了同源 GCDH 敲除的人类 iPSC 系。获得了一个在 GCDH 中具有双等位缺失（SCTCi019-A）的克隆，并对其进行了全面表征，显示正常核型、未检测到脱靶和多能性标记物的表达。该 iPSC 系可有助于深入了解疾病的分子机制。
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