Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset
Summary
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 (LOPD). Both lines are generated via lentiviral expression of OCT4, SOX2, KLF4, and c-MYC. The lines display a typical embryonic stem cell morphology, express pluripotency markers, retain a normal karyotype (46, XX/XY) and have the differentiation capacity in all three germ layers. Altogether, both lines provide a resource tool to the community for future in depth molecular studies of PD pathomechanism. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Volke L, Daya NM, Döring K, Rohm M, Athamneh M, Zaehres H, Roos A, Güttsches AK, Mavrommatis L, Vorgerd M |
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| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103459 |
| PubMed | 38896971 |
| DOI | 10.1016/j.scr.2024.103459 |