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2019 2
2020 6
2021 3
2022 0
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Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system.
Völkner C, Liedtke M, Petters J, Huth K, Knuebel G, Murua Escobar H, Bullerdiek J, Lukas J, Hermann A, Frech MJ. Völkner C, et al. Stem Cell Res. 2020 Dec;49:102056. doi: 10.1016/j.scr.2020.102056. Epub 2020 Oct 16. Stem Cell Res. 2020. PMID: 33099109 Free article.
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Petters J, Völkner C, Krohn S, Murua Escobar H, Bullerdiek J, Reuner U, Frech MJ, Hermann A, Lukas J. Petters J, et al. Among authors: volkner c. Stem Cell Res. 2020 Dec;49:102079. doi: 10.1016/j.scr.2020.102079. Epub 2020 Nov 5. Stem Cell Res. 2020. PMID: 33197697 Free article.
Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual.
Völkner C, Liedtke M, Petters J, Lukas J, Escobar HM, Knuebel G, Bullerdiek J, Holzmann C, Hermann A, Frech MJ. Völkner C, et al. Stem Cell Res. 2020 Dec 15;50:102127. doi: 10.1016/j.scr.2020.102127. Online ahead of print. Stem Cell Res. 2020. PMID: 33360098 Free article.
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Gläser A, Hammerl F, Gräler MH, Coldewey SM, Völkner C, Frech MJ, Yang F, Luo J, Tönnies E, von Bohlen Und Halbach O, Brandt N, Heimes D, Neßlauer AM, Korenke GC, Owczarek-Lipska M, Neidhardt J, Rolfs A, Wree A, Witt M, Bräuer AU. Gläser A, et al. Among authors: volkner c. Int J Mol Sci. 2020 Jun 24;21(12):4502. doi: 10.3390/ijms21124502. Int J Mol Sci. 2020. PMID: 32599915 Free PMC article.
11 results