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Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.

Stem cell research - 1 Sept 2023

Schuurmans Imke M E, Wu Ka M, van Karnebeek Clara D M, Nadif Kasri Nael, Garanto Alejandro

Abstract excerpt

Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway. In this study a human isogenic ALDH7A1 knock-out iPSC line was created using CRISPR/Cas9 technology. One clone (SCTCi019-B) with biallelic deletions in ALDH7A1 was obtained and fully characterized, showing expression of pluripotency markers, a...

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PMID: 37540965
DOI: 10.1016/j.scr.2023.103173

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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