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 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. Copyright © 2021. Published by Elsevier B.V.

Authors Aarts CEM, Varga E, Webbers S, Geissler J, von Lindern M, Kuijpers TW, van den Akker E
Journal Stem cell research
Publication Date 2021 Aug;55:102440
PubMed 34229202
DOI 10.1016/j.scr.2021.102440

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