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


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. Copyright © 2023 The Authors. 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 Jun;69:103069
PubMed 36947993
DOI 10.1016/j.scr.2023.103069

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