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

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

doi:10.1016/j.scr.2022.102912

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

3 Citations (Scopus)

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.

Original language	English
Article number	102912
Journal	Stem Cell Research
Volume	64
DOIs	https://doi.org/10.1016/j.scr.2022.102912
Publication status	Published - Oct 2022
Externally published	Yes

Access to Document

10.1016/j.scr.2022.102912

Cite this

@article{748d928f23b54fcf8c301193e9ae20e8,

title = "Generation of induced pluripotent stem cell lines from three patients with Aicardi-Gouti{\`e}res syndrome type 5 due to biallelic SAMDH1 mutations",

abstract = "Mutations in SAMHD1, encoding SAM and HD domain-containing protein 1, cause Aicardi-Gouti{\`e}res 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.",

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}",

note = "Publisher Copyright: {\textcopyright} 2022 The Author(s)",

year = "2022",

month = oct,

doi = "10.1016/j.scr.2022.102912",

language = "English",

volume = "64",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier B.V.",

}

TY - JOUR

T1 - Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 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 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85138035955&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2022.102912

DO - 10.1016/j.scr.2022.102912

M3 - Article

C2 - 36115319

AN - SCOPUS:85138035955

SN - 1873-5061

VL - 64

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102912

ER -

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

Abstract

Access to Document

Other files and links

Fingerprint

Cite this