TY - JOUR
T1 - Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9
AU - Schuurmans, Imke M. E.
AU - Wu, Ka M.
AU - van Karnebeek, Clara D. M.
AU - Nadif Kasri, Nael
AU - Garanto, Alejandro
N1 - Funding Information:
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825,575 (awarded to C.v.K.) and from an internal Radboudumc PhD grant provided by the Radboud Institute for Molecular Life Sciences to C.v.K and A.G. The funding organizations provided unrestricted grants and had no role in the design or conduct of this research.
Publisher Copyright:
© 2023 The Authors
PY - 2023/6/1
Y1 - 2023/6/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150385141&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/36947993
U2 - 10.1016/j.scr.2023.103069
DO - 10.1016/j.scr.2023.103069
M3 - Article
C2 - 36947993
SN - 1873-5061
VL - 69
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 103069
ER -