Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.

doi:10.1038/s41598-022-06184-w

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Article

Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.

Scientific reports - 10 Feb 2022

Santamaria Ramon, Ballester Maria, Garcia-Llorens Guillem, Martinez Francisco, Blazquez Marina, Ribes-Koninckx Carmen, Castell Jose V, Wuestefeld Torsten, Bort Roque

Abstract excerpt

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...

Topics

Alleles
Animals
Cell Differentiation
Cell- and Tissue-Based Therapy
Cells, Cultured
Clone Cells
Dermis
Female
Fibroblasts
Hepatocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Mice, Knockout

Mutation

Ornithine Carbamoyltransferase Deficiency Disease

X Chromosome

X Chromosome Inactivation

Mice

Source

Open in PubMed Open full text

Identifiers

PMID: 35145162
DOI: 10.1038/s41598-022-06184-w
PMCID: PMC8831560

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