TY  - JOUR
AU  - Korneck, Milena
AU  - Leonhardt, A.
AU  - Schöls, L.
AU  - Hauser, S.
TI  - Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
JO  - Stem cell research
VL  - 77
SN  - 1873-5061
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DZNE-2024-00336
SP  - 103378
PY  - 2024
AB  - 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.
KW  - Induced Pluripotent Stem Cells: metabolism
KW  - CRISPR-Cas Systems
KW  - Gene Editing
KW  - Humans
KW  - Homozygote
KW  - Heterozygote
KW  - Cell Line
KW  - Gene Knockout Techniques
LB  - PUB:(DE-HGF)16
C6  - pmid:38479332
DO  - DOI:10.1016/j.scr.2024.103378
UR  - https://pub.dzne.de/record/268793
ER  -