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000257319 0247_ $$2doi$$a10.1016/j.scr.2023.103066
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000257319 037__ $$aDZNE-2023-00388
000257319 041__ $$aEnglish
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000257319 1001_ $$0P:(DE-2719)9000747$$aSchmitz, Anne S$$b0$$eFirst author$$udzne
000257319 245__ $$aGeneration of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.
000257319 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2023
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000257319 520__ $$aMutations 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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000257319 650_2 $$2MeSH$$aAdult
000257319 650_2 $$2MeSH$$aHumans
000257319 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells
000257319 650_2 $$2MeSH$$aNeurodegenerative Diseases: genetics
000257319 650_2 $$2MeSH$$aCRISPR-Cas Systems: genetics
000257319 650_2 $$2MeSH$$aNeuroglia
000257319 650_2 $$2MeSH$$aLeukoencephalopathies: genetics
000257319 650_2 $$2MeSH$$aMutation
000257319 7001_ $$0P:(DE-2719)9002166$$aKorneck, Milena$$b1$$udzne
000257319 7001_ $$0P:(DE-2719)9001062$$aRaju, Janani$$b2$$udzne
000257319 7001_ $$aLamsfus-Calle, Andrés$$b3
000257319 7001_ $$aDaniel-Moreno, Alberto$$b4
000257319 7001_ $$aAntony, Justin S$$b5
000257319 7001_ $$aMezger, Markus$$b6
000257319 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b7$$udzne
000257319 7001_ $$0P:(DE-2719)2810998$$aHauser, Stefan$$b8$$udzne
000257319 7001_ $$0P:(DE-2719)2813263$$aHayer, Stefanie N$$b9$$eLast author$$udzne
000257319 773__ $$0PERI:(DE-600)2393143-7$$a10.1016/j.scr.2023.103066$$gVol. 69, p. 103066 -$$p103066$$tStem cell research$$v69$$x1873-5061$$y2023
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