Nov 21, 2017 · Using human induced pluripotent stem cells (iPSCs) from two β-thal patients with different HBB gene mutations, we devised and tested a universal strategy to achieve targeted insertion of the HBB cDNA in exon 1 of HBB gene using Cas9 and two validated guide RNAs.

Nov 21, 2017 · Using human induced pluripotent stem cells (iPSCs) from two β-thal patients with different HBB gene mutations, we devised and tested a universal strategy to achieve targeted insertion of the HBB cDNA in exon 1 of HBB gene using Cas9 and two validated guide RNAs.

Dec 8, 2017 · This strategy of restoring functional HBB gene expression will be able to correct most types of HBB gene mutations in both β-thalassemia and sickle cell disease, whether primary hematopoietic stem cells (HSCs) or iPSC-derived HSCs will be used for gene therapy.

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Using human induced pluripotent stem cells (iPSCs) from two b-thal patients with different HBB gene mutations, we devised and tested a universal strategy to achieve targeted insertion of the HBB cDNA in exon 1 of HBB gene using Cas9 and two validated guide RNAs.

Mutations in the HBB gene, which is located on chromosome 11 p15.5 [5], are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia. Hemoglobinopathies are a set of hereditary diseases caused by the abnormal structure or insufficient production of hemoglobin.

Dec 25, 2024 · HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Sickle Cell Disease and Beta-Thalassemia, Dominant Inclusion Body Type. Among its related pathways are Innate Immune System and Erythrocytes take up carbon dioxide and release oxygen.

Apr 15, 2020 · In this study, it was aimed to target HBB gene via CRISPR/Cas9 genome editing tool to introduce nucleotide alterations for efficient genome editing and correction of point mutations causing SCD in human cell line, by Homology Directed Repair (HDR).

Jul 18, 2020 · The occurrence of deletions or duplications in the HBB and HBA cluster was investigated by the Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. To assess the impact of a novel mutation on globin synthesis a …

Dec 20, 2023 · The hbb gene contains the instructions for making beta-globin, one of the subunits of hemoglobin. Mutations in the hbb gene can lead to various blood disorders, such as sickle cell disease and beta thalassemia. Normal functioning of the hbb gene is essential for the proper production of hemoglobin. Any mutations in this gene can result in ...