Generation of an induced pluripotent stem cell line (SDASi001-A) from a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations

Qiuxia He,Xingcui Wang,Xingbang Wang,Weiran Zhou,Na Li,Hongxia Zhang,Linlin Dong

doi:10.1016/j.scr.2023.103217

Generation of an induced pluripotent stem cell line (SDASi001-A) from a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations

Qiuxia He, Xingcui Wang + Show 5 more

Open Access

https://doi.org/10.1016/j.scr.2023.103217

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Journal: Stem Cell Research	Publication Date: Sep 25, 2023
License type: cc-by

Affiliation: Qilu University of Technology, Shandong Academy of Sciences, Shandong University, Qilu Hospital of Shandong University, Jinan Central Hospital

#Induced Pluripotent Stem Cell Line #iPSC Line + Show 8 more

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Abstract

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.

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