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

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posted on 23.11.2022, 17:44 authored by Vanessa Hänchen, Stefanie Kretschmer, Christine Wolf, Kerstin Engel, Shahryar Khattak, Katrin Neumann, Min Ae Lee-Kirsch

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. 

Funding

Deutsche Forschungsgemeinschaft (KFO249 160548243 and CRC237 369799452/B21 and CRC237 369799452/J)

European League Against Leukodystrophies Germany

European Social Fonds (100327771)

Graduate Academy, TU Dresden, (F-010000-702-1B1-2330000)

History

Comments

The original article is available at https://www.sciencedirect.com/

Published Citation

Hänchen V. et al. Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations. Stem Cell Res. 2022;64:102912.

Publication Date

9 September 2022

PubMed ID

36115319

Department/Unit

  • RCSI Bahrain

Publisher

Elsevier

Version

  • Published Version (Version of Record)