Literature DB >> 28925364

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.

Esmeralda Alonso-Barroso1, Sandra Brasil1, Álvaro Briso-Montiano1, Rosa Navarrete2, Celia Pérez-Cerdá2, Magdalena Ugarte2, Belén Pérez1, Lourdes R Desviat1, Eva Richard3.   

Abstract

Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability.
Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2017        PMID： 28925364     DOI： 10.1016/j.scr.2017.07.021

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN： 1873-5061            Impact factor:   2.020


  3 in total

1.  Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.

Authors:  M Sol Collado; Allison J Armstrong; Matthew Olson; Stephen A Hoang; Nathan Day; Marshall Summar; Kimberly A Chapman; John Reardon; Robert A Figler; Brian R Wamhoff
Journal:  Mol Genet Metab       Date:  2020-05-11       Impact factor: 4.797

2.  Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A).

Authors:  Quan Yu; Atul Mehta; Jizhong Zou; Jeanette Beers; Adriana A de Jesus Rasheed; Raphaela Goldbach-Mansky; Manfred Boehm; Guibin Chen
Journal:  Stem Cell Res       Date:  2022-05-25       Impact factor: 1.587

3.  Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.

Authors:  Esmeralda Alonso-Barroso; Belén Pérez; Lourdes Ruiz Desviat; Eva Richard
Journal:  Int J Mol Sci       Date:  2021-01-25       Impact factor: 5.923
  3 in total

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