Generation of an induced pluripotent stem cell line (SYSUSCi004-A) from a patient with Infantile Malignant Osteopetrosis
Summary
Infantile Malignant Osteopetrosis (IMO) is a rare, severe autosomal recessive form of osteopetrosis. Here, the peripheral blood mononuclear cells (PBMCs) extracted from a patient with IMO carrying a compound heterozygous mutation in T cell immune regulator 1, ATPase H + transporting V0 subunit a3 (TCIRG1) gene (c.242delC; c.1114C > T) were successfully reprogrammed using Sendai virus encoding the four Yamanaka factors. The generated hiPSCs, IMO-hiPSCs, displayed typical embryonic stem cell-like morphology and were verified by expression of pluripotency markers such as OCT4, SOX2, NANOG, TRA-1-60 and SSEA4, as well as in vivo and in vitro differentiation into derivatives of three germ layers. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Fang R, Guo X, Feng J, Chen Q, Wang T, Ma J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103330 |
| PubMed | 38335662 |
| DOI | 10.1016/j.scr.2024.103330 |