Article
Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation.
Stem cell research - 1 Jun 2024
Jahn Christopher, Juchem Malte, Sonnenschein Kristina, Gietz Anika, Buchegger Theresa, Lachmann Nico, Göhring Gudrun, Behrens Yvonne Lisa, Bär Christian, Thum Thomas, Hoepfner Jeannine
Abstract excerpt
Fabry disease (FD) is a rare and inherited monogenetic disease caused by mutations in the X-chromosomal alpha-galactosidase A gene GLA concomitant with accumulation of its substrate globotriaosylceramide (Gb3) and multi-organ symptoms. We derived an induced pluripotent stem cell line, MHHi029-A, from a male FD patient carrying a c.959A > T missense mutation in the GLA gene. The hiPSCs show a normal karyotype,...
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