Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset.

Autor:	Volke L; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Daya NM; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Döring K; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Rohm M; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Athamneh M; Department of Clinical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan., Zaehres H; Department of Anatomy and Molecular Embryology, Institute of Anatomy, Ruhr-University Bochum, 44801 Bochum, Germany., Roos A; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Güttsches AK; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Mavrommatis L; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103459. Date of Electronic Publication: 2024 Jun 10.
DOI:	10.1016/j.scr.2024.103459
Abstrakt:	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. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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