Výsledky vyhledávání - "A. Tzvetkova"

Akademický článek

Generation of two isogenic iPSC lines from a healthy male donor of European ancestry

Autor: S. Edwards, L. Hagenau, B. Nowack, J. Rhode, M.F. Hossain, A. Tzvetkova, L.R. Jensen, A.W. Kuss

Publikováno v: Stem Cell Research, Vol 77, Iss , Pp 103403- (2024)

We have created two isogenic iPSC lines from fibroblasts of a healthy male donor of European ancestry. The cell lines express common pluripotency markers, are free of chromosomal aberrations and are able to differentiate into cells of all three germ

Externí odkaz: https://doaj.org/article/4174ad0d690f4f40a9d63ebdf10634d1

Zobrazit plný text záznamu

Akademický článek

Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3′-end of SRCAP using CRISPR/Cas9

Autor: J. Rhode, L. Hagenau, J. Beimdiek, R. Ullmann, F. Hossain, A. Tzvetkova, L.R. Jensen, A.W. Kuss

Publikováno v: Stem Cell Research, Vol 73, Iss , Pp 103249- (2023)

Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3′

Externí odkaz: https://doaj.org/article/953cce2dd4bb4f9681f1cc75c81165f6

Zobrazit plný text záznamu

Akademický článek

Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)

Autor: M. Franz, L. Hagenau, R. Koch, S. Neubauer, B. Nowack, A. Tzvetkova, L.R. Jensen, A.W. Kuss

Publikováno v: Stem Cell Research, Vol 49, Iss , Pp 102028- (2020)

Floating-Harbor syndrome (FLHS) is a rare genetic disease caused by mutations in the SRCAP gene. Here, we generated an induced pluripotent stem cell line from gingival fibroblasts of a male patient with a heterozygous mutation in exon 34 of the SRCAP

Externí odkaz: https://doaj.org/article/94c2a34bb2b34153bc9bf24f2a77c529

Zobrazit plný text záznamu