Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations.

Stem cell research - 1 Oct 2022

Hänchen Vanessa, Kretschmer Stefanie, Wolf Christine, Engel Kerstin, Khattak Shahryar, Neumann Katrin, Lee-Kirsch Min Ae

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Induced Pluripotent Stem Cells
Share to Interferon Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes, Mononuclear

Share to Monomeric GTP-Binding Proteins

Share to Mutation

Share to SAM Domain and HD Domain-Containing Protein 1

Source

Identifiers

PMID: 36115319
DOI: 10.1016/j.scr.2022.102912

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations.PMID 36115319Read ↗

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.Semantic proximity Read ↗

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.Semantic proximity Read ↗

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.Semantic proximity Read ↗

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSemantic proximity Read ↗

SAMHD1 controls nucleoside-based cancer therapeutics, deoxyguanosine toxicity, and inflammationSemantic proximity Read ↗

Disease-specific induced pluripotent stem cells.Semantic proximity Read ↗

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damageSemantic proximity Read ↗

A central role for PI3K-AKT signaling pathway in linking SAMHD1-deficiency to the type I interferon signature.Semantic proximity Read ↗

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.Semantic proximity Read ↗

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.Semantic proximity Read ↗

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.Semantic proximity Read ↗

SAMHD1 Functions and Human Diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.