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

Stem Cell Research (Aug 2021)

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

Affiliations

Cathelijn E.M. Aarts: Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands
Eszter Varga: Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands
Steven Webbers: Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands
Judy Geissler: Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands
Marieke von Lindern: Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands
Taco W. Kuijpers: Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Immunology, Rheumatology & Infectious Diseases, Emma Children’s Hospital, AUMC, University of Amsterdam, Amsterdam, The Netherlands
Emile van den Akker: Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands; Corresponding author.

Journal volume & issue: Vol. 55
p. 102442

Abstract

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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.

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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