Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Stem cell research - 1 Aug 2021

Aarts Cathelijn E M, Varga Eszter, Webbers Steven, Geissler Judy, von Lindern Marieke, Kuijpers Taco W, van den Akker Emile

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Differentiation
Share to Cellular Reprogramming

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Induced Pluripotent Stem Cells

Share to Mutation

Share to Sendai virus

Source

Identifiers

PMID: 34229202
DOI: 10.1016/j.scr.2021.102440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE.PMID 34229202Read ↗

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsSemantic proximity Read ↗

Paternal germline mosaicism of a missense mutation in ELANE in a Chinese male with severe congenital neutropeniaSemantic proximity Read ↗

[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].Semantic proximity Read ↗

CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia.Semantic proximity Read ↗

CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patientsSemantic proximity Read ↗

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.Semantic proximity Read ↗

Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.Semantic proximity Read ↗

A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.Semantic proximity Read ↗

Severe congenital neutropenias.Semantic proximity Read ↗

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.Semantic proximity Read ↗

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.