Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE

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 SANi007-A from a patient with a heterozygous dominant mutation in ELANE

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. 102440

Abstract

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Induced pluripotent stem cell (iPSC) line was generated from erythroblasts (EBLs) derived from a patient diagnosed with severe congenital neutropenia, caused by mutations in ELANE (c.614delG). Transgene-free iPSC line was generated using Sendai virus reprogramming. The iPSC line showed normal karyotype, expressed pluripotency associated genes and was capable of in vitro spontaneous differentiation towards the three germ layers. The generated iPSC line can be used to study severe congenital neutropenia and the role of neutrophil elastase protein.

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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