Generation of an induced pluripotent stem cell line (SDASi001-A) from a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations
Summary
A human induced pluripotent stem cell (iPSC) line (SDASi001-A) was generated from patient with Schimke immune-osseous dysplasia (SIOD), carrying heterozygous mutations in SMARCAL1 gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of OCT4, SOX2, KFL4, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and has the ability to differentiate into cells of three germ layers in vitro. This iPSC line represents a valuable cell model for SIOD in humans. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Wang X, Zhang H, Wang X, Zhou W, Dong L, Li N, He Q |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Oct;72:103217 |
| PubMed | 37788557 |
| DOI | 10.1016/j.scr.2023.103217 |