Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Abstract

Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). 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.

• Authors: E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, M E Gallardo, B Merinero, M Ugarte, L R Desviat, B Pérez
• Journal: Stem cell research (Stem Cell Res) Vol. 29 Pg. 143-147 (05 2018) ISSN: 1876-7753 [Electronic] England
• PMID: 29660608 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• KLF4 protein, human
• Kruppel-Like Factor 4
• Transcription Factors
• Alkyl and Aryl Transferases
• MMAB protein, human

Topics

• Alkyl and Aryl Transferases (genetics)
• Amino Acid Metabolism, Inborn Errors (genetics, metabolism, pathology)
• Amino Acid Substitution
• Cellular Reprogramming Techniques
• Female
• Humans
• Induced Pluripotent Stem Cells (metabolism, pathology)
• Kruppel-Like Factor 4
• Male
• Mutation, Missense
• Transcription Factors (biosynthesis, genetics)