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


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. Copyright © 2020. Published by Elsevier B.V.

Authors Zhao Q, Cui Y, Wang J, Shi L, Qi Z, Luan J, Zhang Y, Zhou X, Han J
Journal Stem cell research
Publication Date 2020 Oct;48:101989
PubMed 32977293
DOI 10.1016/j.scr.2020.101989

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