Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
received:
24
03
2021
revised:
13
04
2021
accepted:
15
04
2021
entrez:
5
6
2021
pubmed:
6
6
2021
medline:
1
7
2021
Statut:
ppublish
Résumé
Congenital microtia is a malformation of the middle and external ear. Duplications involving the ECR, an ear-specific long-range enhancer of HMX1, lead to ear malformation in different species. Use of electroporation of episomal plasmids encodes OCT4, SOX2, NANOG, LIN28, KLF4, and LMYC into peripheral blood mononuclear cells (PBMCs), we generated an induced pluripotent stem cell (iPSCs) line of a microtia patient carrying the duplication involving ECR. The iPSCs express pluripotency markers, have the potential to differentiate into three germ layers, and show the normal karyotype. This patient-specific iPSC will be used for modeling the pathophysiology of ear malformation.
Identifiants
pubmed: 34087987
pii: S1873-5061(21)00203-8
doi: 10.1016/j.scr.2021.102357
pii:
doi:
Substances chimiques
KLF4 protein, human
0
Kruppel-Like Factor 4
0
Transcription Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102357Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.