TY  - JOUR
AU  - Schmitz, Anne S
AU  - Korneck, Milena
AU  - Raju, Janani
AU  - Lamsfus-Calle, Andrés
AU  - Daniel-Moreno, Alberto
AU  - Antony, Justin S
AU  - Mezger, Markus
AU  - Schöls, Ludger
AU  - Hauser, Stefan
AU  - Hayer, Stefanie N
TI  - Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.
JO  - Stem cell research
VL  - 69
SN  - 1873-5061
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DZNE-2023-00388
SP  - 103066
PY  - 2023
N1  - CC BY
AB  - Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with severe cognitive and motor impairment. In this study, a homozygous and a heterozygous CSF1R knockout induced pluripotent stem cell (iPSC) line were generated by CRISPR/Cas9-based gene editing. These in vitro models will provide a helpful tool for investigating the still largely unknown pathophysiology of CSF1R-related leukoencephalopathy.
KW  - Adult
KW  - Humans
KW  - Induced Pluripotent Stem Cells
KW  - Neurodegenerative Diseases: genetics
KW  - CRISPR-Cas Systems: genetics
KW  - Neuroglia
KW  - Leukoencephalopathies: genetics
KW  - Mutation
LB  - PUB:(DE-HGF)16
C6  - pmid:36947995
DO  - DOI:10.1016/j.scr.2023.103066
UR  - https://pub.dzne.de/record/257319
ER  -