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Korneck, M.; Leonhardt, A.; Schöls, L.; Hauser, S.
Stem cell research, June 2024, 2024-Jun, 2024-06-00, 20240601, 2024-06-01, Letnik: 77Journal Article
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous and a heterozygous REEP1 knockout induced pluripotent stem cell line suitable for in vitro disease modelling using the CRISPR/Cas9 editing system.
