Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene


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 Mononuclear Cells (PBMCs) of a patient carrying the heterozygous mutations p.Y512X and c.2236 + 1G > A. A Sendai virus-based vector was used and the iPSCs were characterized for genetic identity to parental cells, genomic integrity, pluripotency, and differentiation ability. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lanzi G, Ferraro RM, Masneri S, Piovani G, Barisani C, Sobacchi C, Villa A, Vezzoni P, Giliani S
Journal Stem cell research
Publication Date 2020 Jan;42:101660
PubMed 31794943
DOI 10.1016/j.scr.2019.101660

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