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

  • 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 \(\it GAA\) 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 \(\it OCT4\), \(\it SOX2\), \(\it KLF4\), and \(\it c-MYC\). 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.

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Metadaten
Author:Leon VolkeORCiDGND, Nassam M. DajaGND, Kristina DöringORCiDGND, Marlena RohmORCiDGND, Mohammad J. AthamnehGND, Holm ZaehresORCiDGND, Andreas RoosORCiDGND, Anne-Katrin GüttschesORCiDGND, Lampros MavrommatisGND, Matthias VorgerdORCiDGND
URN:urn:nbn:de:hbz:294-120017
DOI:https://doi.org/10.1016/j.scr.2024.103459
Parent Title (English):Stem cell research
Subtitle (English):Lab Resource: Multiple Cell Lines
Publisher:Elsevier B.V.
Place of publication:Hoboken, New Jersey
Document Type:Article
Language:English
Date of Publication (online):2025/02/10
Date of first Publication:2024/06/10
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
Volume:79
Issue:Artikel 103459
First Page:103459-1
Last Page:103459-5
Note:
Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum.
Institutes/Facilities:Heimer-Institut für Muskelforschung am Bergmannsheil
Dewey Decimal Classification:Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit
open_access (DINI-Set):open_access
Licence (English):License LogoCreative Commons - CC BY-NC-ND 4.0 - Attribution-NonCommercial-NoDerivatives 4.0 International

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