Development of a human iPSC line (SMBCi004-A) from a patient with Gaucher disease

Qingyang Zhao; Yazhou Cui; Jing Wang; Liang Shi; Zijuan Qi; Jing Luan; Yuang Zhang; Xiaoyan Zhou; Jinxiang Han

doi:10.1016/j.scr.2020.101989

Development of a human iPSC line (SMBCi004-A) from a patient with Gaucher disease

Stem Cell Res. 2020 Oct:48:101989. doi: 10.1016/j.scr.2020.101989. Epub 2020 Sep 7.

Authors

Qingyang Zhao¹, Yazhou Cui¹, Jing Wang¹, Liang Shi¹, Zijuan Qi¹, Jing Luan¹, Yuang Zhang¹, Xiaoyan Zhou¹, Jinxiang Han²

Affiliations

¹ Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.
² Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China. Electronic address: jxhan9888@aliyun.com.

PMID: 32977293
DOI: 10.1016/j.scr.2020.101989

Abstract

A human induced pluripotent stem cell (iPSC) line was generated from the urine cells of a 8-year-old female with Gaucher disease with the homozygous changes c.1448 T>C in the GBA gene. Reprogramming factors OCT4, SOX2, KLF4, and miR-302-367 were delivered using a non-integrative plasmid. Our iPSCs showed complete pluripotency, normal genetic stability, and the ability to differentiate into three germ layers.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cellular Reprogramming
Child
Female
Gaucher Disease* / genetics
Homozygote
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4