Project description:Congenital dyserythropoietic anemia Type 1 (CDA1) is a rare macrocytic anemia caused by loss-of-function mutation of CDAN1. To investigate the functional role of CDAN1, we performed RNA-sequencing on human erythroleukemic K562 cells with CDAN1 shRNA knockdown using a doxycycline inducible system
Project description:Analysis of erythroblastic cells differentiated from induced pluripotent stem cells (iPSCs) generated from peripheral blood T lymphocytes of CDA type IV patient. Type IV congenital dyserythropoietic anemia (CDA) is due to a monoallelic mutation at the second zinc finger of KLF1 (c.973G>A). Results provide insight into molecular mechanisms underlying CDA pathogenesis.
2019-03-04 | GSE102985 | GEO
Project description:The LSD1 inhibitor RN1 rescues Congenital Dyserythropoietic Anemia type II
Project description:Exome sequencing of 184 samples from consanguineous families with different congenital heart defects collected at KAIMRC, Riyadh, Saudi Arabia.
Project description:Exome sequencing of 184 samples from consanguineous families with different congenital heart defects collected at KAIMRC, Riyadh, Saudi Arabia.
Project description:Precision Epidemiological Analysis of Multidrug-Resistant Pseudomonas aeruginosa in Tertiary Hospitals of Jeddah and Riyadh, Saudi Arabia