Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells.

ABSTRACT:

Background

Autosomal dominant osteopetrosis type II (ADO2) is a genetically and phenotypically metabolic bone disease, caused by osteoclast abnormalities. The pathways dysregulated in ADO2 could lead to the defects in osteoclast formation and function. However, the mechanism remains elusive.

Materials and methods

To systematically explore the molecular characterization of ADO2, we performed a multi-omics profiling from the autosomal dominant osteopetrosis type II iPSCs (ADO2-iPSCs) and healthy normal control iPSCs (NC-iPSCs) using whole genome re-sequencing, DNA methylation and N6-methyladenosine (m6A) analysis in this study.

Results

Totally, we detected 7,095,817 single nucleotide polymorphisms (SNPs) and 1,179,573 insertion and deletions (InDels), 1,001,943 differen

SUBMITTER: Li C 

PROVIDER: S-EPMC8549315 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature