Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Article number103069
JournalStem Cell Research
Publication statusPublished - 1 Jun 2023
Externally publishedYes

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