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@ARTICLE{Korneck:268793,
author = {Korneck, Milena and Leonhardt, A. and Schöls, L. and
Hauser, S.},
title = {{G}eneration of homozygous and heterozygous {REEP}1
knockout induced pluripotent stem cell lines by
{CRISPR}/{C}as9 gene editing},
journal = {Stem cell research},
volume = {77},
issn = {1873-5061},
address = {Amsterdam [u.a.]},
publisher = {Elsevier},
reportid = {DZNE-2024-00336},
pages = {103378},
year = {2024},
abstract = {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.},
keywords = {Induced Pluripotent Stem Cells: metabolism / CRISPR-Cas
Systems / Gene Editing / Humans / Homozygote / Heterozygote
/ Cell Line / Gene Knockout Techniques},
cin = {AG Hauser / AG Schöls},
ddc = {570},
cid = {I:(DE-2719)1210016 / I:(DE-2719)5000005},
pnm = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:38479332},
doi = {10.1016/j.scr.2024.103378},
url = {https://pub.dzne.de/record/268793},
}