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

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

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 karyot...

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Main Authors: Cathelijn E.M. Aarts, Eszter Varga, Steven Webbers, Judy Geissler, Marieke von Lindern, Taco W. Kuijpers, Emile van den Akker
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002877
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spelling doaj-69d9824dc1c4436da552bcfdf0ae2e802021-09-11T04:28:11ZengElsevierStem Cell Research1873-50612021-08-0155102440Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANECathelijn E.M. Aarts0Eszter Varga1Steven Webbers2Judy Geissler3Marieke von Lindern4Taco W. Kuijpers5Emile van den Akker6Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The NetherlandsDepartment of Hematopoiesis, Sanquin Research, Amsterdam, The NetherlandsDepartment of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The NetherlandsDepartment of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The NetherlandsDepartment of Hematopoiesis, Sanquin Research, Amsterdam, The NetherlandsDepartment 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 NetherlandsDepartment of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506121002877
collection DOAJ
language English
format Article
sources DOAJ
author Cathelijn E.M. Aarts
Eszter Varga
Steven Webbers
Judy Geissler
Marieke von Lindern
Taco W. Kuijpers
Emile van den Akker
spellingShingle Cathelijn E.M. Aarts
Eszter Varga
Steven Webbers
Judy Geissler
Marieke von Lindern
Taco W. Kuijpers
Emile van den Akker
Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
Stem Cell Research
author_facet Cathelijn E.M. Aarts
Eszter Varga
Steven Webbers
Judy Geissler
Marieke von Lindern
Taco W. Kuijpers
Emile van den Akker
author_sort Cathelijn E.M. Aarts
title Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
title_short Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
title_full Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
title_fullStr Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
title_full_unstemmed Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
title_sort generation and characterization of a human ipsc line sani007-a from a patient with a heterozygous dominant mutation in elane
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-08-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506121002877
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AT esztervarga generationandcharacterizationofahumanipsclinesani007afromapatientwithaheterozygousdominantmutationinelane
AT stevenwebbers generationandcharacterizationofahumanipsclinesani007afromapatientwithaheterozygousdominantmutationinelane
AT judygeissler generationandcharacterizationofahumanipsclinesani007afromapatientwithaheterozygousdominantmutationinelane
AT mariekevonlindern generationandcharacterizationofahumanipsclinesani007afromapatientwithaheterozygousdominantmutationinelane
AT tacowkuijpers generationandcharacterizationofahumanipsclinesani007afromapatientwithaheterozygousdominantmutationinelane
AT emilevandenakker generationandcharacterizationofahumanipsclinesani007afromapatientwithaheterozygousdominantmutationinelane
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