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


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 normal karyotype and no off-targets. Human-based models derived from this iPSC line will contribute to gain insights in the molecular mechanism of disease underlying PDE. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Schuurmans IME, Wu KM, van Karnebeek CDM, Nadif Kasri N, Garanto A
Journal Stem cell research
Publication Date 2023 Sep;71:103173
PubMed 37540965
DOI 10.1016/j.scr.2023.103173

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