Article
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Stem cell research - 1 Jan 2020
Lanzi Gaetana, Ferraro Rosalba Monica, Masneri Stefania, Piovani Giovanna, Barisani Chiara, Sobacchi Cristina, Villa Anna, Vezzoni Paolo, Giliani Silvia
Abstract excerpt
Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump, is mutated in more than 50% of the cases, increasing the importance of TCIRG1-iPSCs as disease model. We generated 3 iPSC clones derived from Peripheral Blood...
Topics
- Humans
- Induced Pluripotent Stem Cells
- Infant
- Male
- Mutation
- Osteopetrosis
- Vacuolar Proton-Translocating ATPases