Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.
Alleles
Animals
Cell Differentiation
Cell- and Tissue-Based Therapy
/ methods
Cells, Cultured
Clone Cells
Dermis
/ cytology
Female
Fibroblasts
Hepatocytes
/ transplantation
Humans
Mice, Knockout
Mutation
Ornithine Carbamoyltransferase Deficiency Disease
/ genetics
X Chromosome
/ genetics
X Chromosome Inactivation
/ genetics
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
10 02 2022
10 02 2022
Historique:
received:
12
07
2021
accepted:
18
01
2022
entrez:
11
2
2022
pubmed:
12
2
2022
medline:
8
3
2022
Statut:
epublish
Résumé
Autologous cell replacement therapy for inherited metabolic disorders requires the correction of the underlying genetic mutation in patient's cells. An unexplored alternative for females affected from X-linked diseases is the clonal selection of cells randomly silencing the X-chromosome containing the mutant allele, without in vivo or ex vivo genome editing. In this report, we have isolated dermal fibroblasts from a female patient affected of ornithine transcarbamylase deficiency and obtained clones based on inactivation status of either maternally or paternally inherited X chromosome, followed by differentiation to hepatocytes. Hepatocyte-like cells derived from these clones display indistinct features characteristic of hepatocytes, but express either the mutant or wild type OTC allele depending on X-inactivation pattern. When clonally derived hepatocyte-like cells were transplanted into FRG
Identifiants
pubmed: 35145162
doi: 10.1038/s41598-022-06184-w
pii: 10.1038/s41598-022-06184-w
pmc: PMC8831560
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2308Informations de copyright
© 2022. The Author(s).
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