Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9

使用 CRISPR/Cas9 生成携带与神经发育障碍相关的钙粘蛋白 13 杂合子 (UKWMPi002-A-1) 和无效突变敲除 (UKWMPi002-A-2) 的诱导性多能干细胞 (iPSC) 系

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作者:Maria Rosaria Vitale, Johanna Eva Maria Zöller, Charline Jansch, Anna Janz, Frank Edenhofer, Eva Klopocki, Daniel van den Hove, Tim Vanmierlo, Olga Rivero, Nael Nadif Kasri, Georg Christoph Ziegler, Klaus-Peter Lesch

Abstract

Fibroblasts isolated from a skin biopsy of a healthy 46-year-old female were infected with Sendai virus containing the Yamanaka factors to produce transgene-free human induced pluripotent stem cells (iPSCs). CRISPR/Cas9 was used to generate isogenic cell lines with a gene dose-dependent deficiency of CDH13, a risk gene associated with neurodevelopmental and psychiatric disorders. Thereby, a heterozygous CDH13 knockout (CDH13+/-) and a CDH13 null mutant (CDH13-/-) iPSC line was obtained. All three lines showed expression of pluripotency-associated markers, the ability to differentiate into cells of the three germ layers in vitro, and a normal female karyotype.

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