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

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

Stem Cell Research (Oct 2023)

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

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

Affiliations

Xingcui Wang: Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), Ji’nan, Shandong, China; Department of Rheumatology and Immunology, Children’s Hospital Affiliated to Shandong University, Ji’nan, Shandong, China
Hongxia Zhang: Department of Rheumatology and Immunology, Children’s Hospital Affiliated to Shandong University, Ji’nan, Shandong, China
Xingbang Wang: Department of Geriatric Medicine, Qilu Hospital of Shandong University, Ji’nan, Shandong, China
Weiran Zhou: Department of Rheumatology and Immunology, Children’s Hospital Affiliated to Shandong University, Ji’nan, Shandong, China
Linlin Dong: Department of Rheumatology and Immunology, Children’s Hospital Affiliated to Shandong University, Ji’nan, Shandong, China
Na Li: Dermatology Department, Jinan Central Hospital, Ji’nan, Shandong, China; Corresponding authors.
Qiuxia He: Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), Ji’nan, Shandong, China; Corresponding authors.

Journal volume & issue: Vol. 72
p. 103217

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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