Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient


Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Chédiak-Higashi Syndrome (CHS), caused by mutations in LYST (c.4322_4325delAGAG and c.10127A>G). EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit, where the generated iPSCs showed normal karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study CHS pathophysiology and the role of LYST in different cell types. Copyright © 2021. Published by Elsevier B.V.

Authors Aarts CEM, Varga E, Webbers S, Geissler J, von Lindern M, Kuijpers TW, van den Akker E
Journal Stem cell research
Publication Date 2021 Aug;55:102442
PubMed 34224985
DOI 10.1016/j.scr.2021.102442

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