RNA-seq of mouse embryonic stem cells with knockout of Nhlrc2 gene or addition of FINCA disease causing NHLRC2 p.Asp148Tyr variant

ABSTRACT: 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), four homozygous C57BL/6NCrl-Nhlrc2em1Rthl (FINCA disease causing variant) (Hiltunen et al., 2020), and four homozygous C57BL/6NCrl-Nhlrc2tm1a(KOMP)Wtsi (Nhlrc2 knock out) mouse embryonic stem cell lines each established from individual mouse embryos by the 2i method (Nichols et al., 2009). FINCA variant mESCs express the full length endogenous Nhlrc2 mRNA modified to containing a c.442G > T variant leading to p.Asp148Tyr as well as a silent c.408C>A for genotyping purposes (Hiltunen et al., 2020)

INSTRUMENT(S): NextSeq 550

ORGANISM(S): Mus musculus

SUBMITTER: Anniina Hiltunen 

PROVIDER: E-MTAB-14174 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress