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TranscriptomicsRNA-seq of mouse embryonic stem cells with knockout of Nhlrc2 gene or addition of FINCA disease causing NHLRC2 p.Asp148Tyr variant
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) (OMIM 618278) is a rare infantile-onset disease caused by variants in NHL repeat containing 2 (NHLRC2) gene. NHLRC2 is essential for mouse gastrulation (Hiltunen et al., 2022). Here, RNA sequencing was performed on four wild type (WT), f...
ORGANISM(S): Mus musculus 
2025-05-22 | E-MTAB-14174 | biostudies-arrayexpress
ProteomicsProximity-Dependent Biotin Identification of NHL repeat containing 2 (NHLRC2) and FINCA disease variant(p.Asp148Tyr)
BioID analysis was performed on wild type NHLRC2 and NHLRC2 containing a FINCA disease variant (pAsp148Tyr) tagged C-terminally with BirA-FLAG. Stable cells with the genomic insertion of recombinant wild type NHLRC2 and FINCA variant were generated as Flp-In 293 T-REx HEK 293 cell pools and expressi...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-06-07 | MSV000094956 | MassIVE
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