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Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.
Völkner C, Peter F, Liedtke M, Krohn S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ. Völkner C, et al. Among authors: murua escobar h. Stem Cell Res. 2019 Dec;41:101606. doi: 10.1016/j.scr.2019.101606. Epub 2019 Oct 15. Stem Cell Res. 2019. PMID: 31669975 Free article.
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. Among authors: murua escobar h. 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: murua escobar h. 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.
Ultradeep targeted sequencing reveals low allele frequencies of somatic JAK2 and MPL variants in patients with abdominal vein thromboses: results of an ongoing prospective prevalence study in Mecklenburg-West Pomerania.
Grunwald L, Grosse-Thie C, Sender S, Knuebel G, Krohn S, Roolf C, Junghanss C, Henze L, Murua Escobar H. Grunwald L, et al. Among authors: murua escobar h. Biomark Res. 2020 Dec 14;8(1):73. doi: 10.1186/s40364-020-00254-9. Biomark Res. 2020. PMID: 33317584 Free PMC article.
172 results