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
N1 - Funding Information:
We thank the patients and their families for participation in the study. We thank Sarah Burkel, Claudia Richter and Anne Gompf for technical assistance, and acknowledge the assistance of the imaging and flow cytometry facilities of the Center for Molecular and Cellular Bioengineering (CMBC) and the Medical Theoretical Centre, TU Dresden. This work was supported by grants from the Deutsche Forschungsgemeinschaft (KFO249 160548243 and CRC237 369799452/B21) and the European League Against Leukodystrophies Germany to MLK, from the Deutsche Forschungsgemeinschaft (CRC237 369799452/J) to CW, from the European Social Fonds (100327771) and the Graduate Academy, TU Dresden, (F-010000-702-1B1-2330000) to VH.
Funding Information:
We thank the patients and their families for participation in the study. We thank Sarah Burkel, Claudia Richter and Anne Gompf for technical assistance, and acknowledge the assistance of the imaging and flow cytometry facilities of the Center for Molecular and Cellular Bioengineering (CMBC) and the Medical Theoretical Centre, TU Dresden. This work was supported by grants from the Deutsche Forschungsgemeinschaft (KFO249 160548243 and CRC237 369799452/B21) and the European League Against Leukodystrophies Germany to MLK, from the Deutsche Forschungsgemeinschaft (CRC237 369799452/J) to CW, from the European Social Fonds (100327771) and the Graduate Academy, TU Dresden, (F-010000-702-1B1-2330000) to VH.
Publisher Copyright:
© 2022 The Author(s)
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 -