Article
Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset.
Stem cell research - 1 Sept 2024
Volke L, Daya N M, Döring K, Rohm M, Athamneh M, Zaehres H, Roos A, Güttsches A K, Mavrommatis L, Vorgerd M
Abstract excerpt
Here we present the generation of HIMRi006-A and HIMRi007-A Pompe disease (PD) patient derived human induced pluripotent stem cell (hiPSC) lines. HIMRi006-A represents an infantile onset disease (IOPD) phenotype caused by a homozygous c.307 T > G mutation in the GAA gene. HIMRi007-A is characterized by heterozygous mutations c.-32-13 T > G/c.1716C > G and is associated with an adult onset of disease symptoms...
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