Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome

Camille Peron; Roberta Mauceri; Angelo Iannielli; Andrea Cavaliere; Andrea Legati; Ambra Rizzo; Francesca L Sciacca; Vania Broccoli; Valeria Tiranti

doi:10.1016/j.scr.2020.102151

Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome

Stem Cell Res. 2021 Jan 4:50:102151. doi: 10.1016/j.scr.2020.102151. Online ahead of print.

Authors

Camille Peron¹, Roberta Mauceri¹, Angelo Iannielli², Andrea Cavaliere¹, Andrea Legati¹, Ambra Rizzo³, Francesca L Sciacca³, Vania Broccoli², Valeria Tiranti⁴

Affiliations

¹ Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
² San Raffaele Scientific Institute, Milan, Italy; National Research Council (CNR), Institute of Neuroscience, Milan, Italy.
³ Laboratory of Clinical Investigation, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
⁴ Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address: valeria.tiranti@istituto-besta.it.

PMID: 33434818
DOI: 10.1016/j.scr.2020.102151

Abstract

Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is characterized by the presence of deleted (Δ) mtDNA that co-exist with the presence of a variable amount of wild-type mtDNA, a condition termed heteroplasmy. All tissues of the affected individual, including the haemopoietic system and the post-mitotic, highly specialized tissues (brain, skeletal muscle, and heart) contain the large-scale mtDNA deletion in variable amount. We generated human induced pluripotent stem cells (hiPSCs) from two PMPS patients, carrying different type of large-scale deletion.