Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation

Natalia Zapata-Linares; Saray Rodriguez; Eduardo Salido; Gloria Abizanda; Elena Iglesias; Felipe Prosper; Gloria Gonzalez-Aseguinolaza; Juan R Rodriguez-Madoz

doi:10.1016/j.scr.2015.12.014

Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation

Stem Cell Res. 2016 Jan;16(1):116-9. doi: 10.1016/j.scr.2015.12.014. Epub 2015 Dec 28.

Authors

Natalia Zapata-Linares¹, Saray Rodriguez¹, Eduardo Salido², Gloria Abizanda¹, Elena Iglesias¹, Felipe Prosper³, Gloria Gonzalez-Aseguinolaza⁴, Juan R Rodriguez-Madoz⁵

Affiliations

¹ Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
² Hospital Universitario de Canarias, Universidad La Laguna, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain.
³ Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain; Area of Cell Therapy, Clínica Universidad de Navarra, University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
⁴ Gene Therapy and Regulation of Gene Expression Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain. Electronic address: ggasegui@unav.es.
⁵ Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain. Electronic address: jrrodriguez@unav.es.

PMID: 27345794
DOI: 10.1016/j.scr.2015.12.014

Abstract

In this work we describe for the first time the generation and characterization of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMCs) and dermal fibroblasts of a Primary Hyperoxaluria Type I (PH1)-diagnosed patient with p.I244T mutation, which is highly prevalent in Canary Islands due to founder effect. Cell reprogramming was performed using non-integrative Sendai viruses containing the Yamanaka factors and the generated PH1-hiPSC lines (PH1-PBMCs-hiPSC4F1 and PH1-Fib-hiPSC4F1) showed normal karyotypes, silencing of the exogenous reprogramming factors, induction of the typical pluripotency-associated markers and in vivo differentiation ability to the three germ layers.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Cell Differentiation
Cell Line
Cellular Reprogramming
DNA Mutational Analysis
Flow Cytometry
Humans
Hyperoxaluria, Primary / metabolism
Hyperoxaluria, Primary / pathology*
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Karyotype
Male
Microscopy, Fluorescence
Plasmids / metabolism
Polymorphism, Single Nucleotide
Transaminases / genetics*
Transcription Factors / genetics
Transcription Factors / metabolism
Transfection

Substances

Transcription Factors
Transaminases
Alanine-glyoxylate transaminase

Supplementary concepts

Primary hyperoxaluria type 1