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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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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