TY - JOUR
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
N1 - Funding Information:
We thank the patients and their families for participation in the study. We thank Claudia Richter, Sarah Burkel 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 Claudia Richter, Sarah Burkel 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 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.
UR - http://www.scopus.com/inward/record.url?scp=85136565973&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2022.102895
DO - 10.1016/j.scr.2022.102895
M3 - Article
C2 - 36027857
AN - SCOPUS:85136565973
SN - 1873-5061
VL - 64
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102895
ER -