Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
04 Jan 2021
04 Jan 2021
Historique:
received:
20
10
2020
revised:
03
12
2020
accepted:
30
12
2020
pubmed:
13
1
2021
medline:
13
1
2021
entrez:
12
1
2021
Statut:
aheadofprint
Résumé
Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is characterized by the presence of deleted (Δ) mtDNA that co-exist with the presence of a variable amount of wild-type mtDNA, a condition termed heteroplasmy. All tissues of the affected individual, including the haemopoietic system and the post-mitotic, highly specialized tissues (brain, skeletal muscle, and heart) contain the large-scale mtDNA deletion in variable amount. We generated human induced pluripotent stem cells (hiPSCs) from two PMPS patients, carrying different type of large-scale deletion.
Identifiants
pubmed: 33434818
pii: S1873-5061(20)30452-9
doi: 10.1016/j.scr.2020.102151
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
102151Informations de copyright
Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.