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We used primary human CHH (cartilage-hair hypoplasia) and control fibroblasts in a chondrogenic transdifferentiation model (FDC; fibroblast-derived chondrocytes) to determine the chondrogenic capacity and differential pathway regulation of CHH cells. For the sequencing experiment, dermal fibroblasts...
ORGANISM(S): Homo sapiens 
RNA-seq of control and CHH (cartilage-hair hypoplasia) fibroblasts transdifferentiated into chondrocytes-like cells
Genomics
whole-exome sequencing for Cartilage-hair hypoplasia
Mutations in the human RMRP gene cause Cartilage Hair Hypoplasia (CHH), an autosomal recessive disorder characterized by skeletal abnormalities and impaired T-cell activation. RMRP encodes a non-coding RNA, which forms the core of the RNase MRP ribonucleoprotein complex. In budding yeast, RMRP cleav...
ORGANISM(S): Homo sapiens (Human) 
2021-03-30 | PXD025029 | Pride
Transcriptomic analysis of cartilage-hair hypoplasia (CHH) patients compared to controls, using the STRT sequencing method.
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