Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

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

doi:10.1016/j.scr.2022.102895

Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

5 Citations (Scopus)

Abstract

Mutations in TREX1, encoding three prime repair exonuclease 1, cause Aicardi-Goutières syndrome (AGS) 1, an autoinflammatory disease characterized by neurodegeneration and constitutive activation of the antiviral cytokine type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts from two AGS patients with biallelic TREX1 mutations. These cell lines offer a unique resource to investigate disease processes in a cell-type specific manner.

Original language	English
Article number	102895
Journal	Stem Cell Research
Volume	64
DOIs	https://doi.org/10.1016/j.scr.2022.102895
Publication status	Published - Oct 2022
Externally published	Yes

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title = "Generation of induced pluripotent stem cell lines from two patients with Aicardi-Gouti{\`e}res syndrome type 1 due to biallelic TREX1 mutations",

abstract = "Mutations in TREX1, encoding three prime repair exonuclease 1, cause Aicardi-Gouti{\`e}res syndrome (AGS) 1, an autoinflammatory disease characterized by neurodegeneration and constitutive activation of the antiviral cytokine type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts from two AGS patients with biallelic TREX1 mutations. These cell lines offer a unique resource to investigate disease processes in a cell-type specific manner.",

author = "Vanessa H{\"a}nchen and Stefanie Kretschmer and Christine Wolf and Kerstin Engel and Shahryar Khattak and Katrin Neumann and Lee-Kirsch, {Min Ae}",

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year = "2022",

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doi = "10.1016/j.scr.2022.102895",

language = "English",

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T1 - Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

AU - Hänchen, Vanessa

AU - Kretschmer, Stefanie

AU - Wolf, Christine

AU - Engel, Kerstin

AU - Khattak, Shahryar

AU - Neumann, Katrin

AU - Lee-Kirsch, Min Ae

PY - 2022/10

Y1 - 2022/10

N2 - Mutations in TREX1, encoding three prime repair exonuclease 1, cause Aicardi-Goutières syndrome (AGS) 1, an autoinflammatory disease characterized by neurodegeneration and constitutive activation of the antiviral cytokine type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts from two AGS patients with biallelic TREX1 mutations. These cell lines offer a unique resource to investigate disease processes in a cell-type specific manner.

AB - Mutations in TREX1, encoding three prime repair exonuclease 1, cause Aicardi-Goutières syndrome (AGS) 1, an autoinflammatory disease characterized by neurodegeneration and constitutive activation of the antiviral cytokine type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts from two AGS patients with biallelic TREX1 mutations. These cell lines offer a unique resource to investigate disease processes in a cell-type specific manner.

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DO - 10.1016/j.scr.2022.102895

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SN - 1873-5061

VL - 64

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102895

ER -

Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

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