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001     257319
005     20231120155338.0
024 7 _ |a 10.1016/j.scr.2023.103066
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037 _ _ |a DZNE-2023-00388
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Schmitz, Anne S
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245 _ _ |a Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.
260 _ _ |a Amsterdam [u.a.]
|c 2023
|b Elsevier
336 7 _ |a article
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520 _ _ |a 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.
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650 _ 2 |a Adult
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650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Induced Pluripotent Stem Cells
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650 _ 2 |a Neurodegenerative Diseases: genetics
|2 MeSH
650 _ 2 |a CRISPR-Cas Systems: genetics
|2 MeSH
650 _ 2 |a Neuroglia
|2 MeSH
650 _ 2 |a Leukoencephalopathies: genetics
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
700 1 _ |a Korneck, Milena
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700 1 _ |a Raju, Janani
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700 1 _ |a Lamsfus-Calle, Andrés
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700 1 _ |a Daniel-Moreno, Alberto
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700 1 _ |a Antony, Justin S
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700 1 _ |a Mezger, Markus
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700 1 _ |a Schöls, Ludger
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700 1 _ |a Hauser, Stefan
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700 1 _ |a Hayer, Stefanie N
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773 _ _ |a 10.1016/j.scr.2023.103066
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