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

Cathelijn E. M. Aarts, Eszter Varga, Steven Webbers, Judy Geissler, Marieke von Lindern, Taco W. Kuijpers, Emile van den Akker

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.
Original languageEnglish
Article number102442
JournalStem Cell Research
Volume55
DOIs
Publication statusPublished - 1 Aug 2021

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