Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations
Publikation: Beitrag in Fachzeitschrift › Fallbericht (Case report) › Beigetragen › Begutachtung
Beitragende
- Royal College of Surgeons in Ireland
Abstract
Mutations in SAMHD1, encoding SAM and HD domain-containing protein 1, cause Aicardi-Goutières syndrome (AGS) 5, an infancy-onset autoinflammatory disease characterized by neurodegeneration and chronic activation of type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts and peripheral blood mononuclear cells from three AGS patients with biallelic SAMHD1 mutations. These cell lines provide a valuable source to study disease mechanisms and to assess therapeutic molecules.
Details
| Originalsprache | Englisch |
|---|---|
| Aufsatznummer | 102912 |
| Fachzeitschrift | Stem cell research |
| Jahrgang | 64 |
| Frühes Online-Datum | 9 Sept. 2022 |
| Publikationsstatus | Veröffentlicht - Okt. 2022 |
| Peer-Review-Status | Ja |
Externe IDs
| Scopus | 85138035955 |
|---|---|
| WOS | 000860492600009 |
| unpaywall | 10.1016/j.scr.2022.102912 |
| Mendeley | 7ee911c1-b3bd-3c27-bd66-3d0630426280 |
Schlagworte
Forschungsprofillinien der TU Dresden
- Gesundheitswissenschaften, Biomedizin und Bioengineering - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
- Regenerative Therapien - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
DFG-Fachsystematik nach Fachkollegium
- Zellbiologie - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
ASJC Scopus Sachgebiete
- Zellbiologie - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
- Entwicklungsbiologie - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
Schlagwörter
- Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
Bibliotheksschlagworte
- 610 Medizin und Gesundheit - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics
- 576 Genetik und Evolution - Humans, Induced Pluripotent Stem Cells/metabolism, Interferon Type I/genetics, Leukocytes, Mononuclear/metabolism, Monomeric GTP-Binding Proteins/genetics, Mutation/genetics, SAM Domain and HD Domain-Containing Protein 1/genetics