Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
19
03
2022
revised:
01
04
2022
accepted:
05
04
2022
pubmed:
15
4
2022
medline:
4
5
2022
entrez:
14
4
2022
Statut:
ppublish
Résumé
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system (ANS), characterized by inadequate control of autonomic ventilation and global autonomic dysfunction. Heterozygous polyalanine repeat expansion mutations in exon 3 of the transcription factor Paired-like homeobox 2B (PHOX2B) gene occur in 90% of CCHS cases. In this study, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from female CCHS patients carrying a heterozygous + 5 alanine expansion mutation. The generated iPSC lines show a normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.
Identifiants
pubmed: 35421844
pii: S1873-5061(22)00130-1
doi: 10.1016/j.scr.2022.102781
pii:
doi:
Substances chimiques
Homeodomain Proteins
0
Peptides
0
Transcription Factors
0
polyalanine
25191-17-7
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102781Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.