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Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE.
Aarts, Cathelijn E M; Varga, Eszter; Webbers, Steven; Geissler, Judy; von Lindern, Marieke; Kuijpers, Taco W; van den Akker, Emile.
Afiliación
  • Aarts CEM; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Varga E; Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands.
  • Webbers S; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Geissler J; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
  • von Lindern M; Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands.
  • Kuijpers TW; 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 Ne
  • van den Akker E; Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands. Electronic address: e.vandenakker@sanquin.nl.
Stem Cell Res ; 55: 102440, 2021 08.
Article en En | MEDLINE | ID: mdl-34229202
ABSTRACT
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos