Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming

Monique Bax; Rachelle Balez; Sonia Sanz Muñoz; Dzung Do-Ha; Claire H Stevens; Tracey Berg; Mauricio C Cabral-da-Silva; Martin Engel; Garth Nicholson; Shu Yang; Ian P Blair; Lezanne Ooi

doi:10.1016/j.scr.2019.101530

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF^S621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming

Stem Cell Res. 2019 Oct:40:101530. doi: 10.1016/j.scr.2019.101530. Epub 2019 Aug 14.

Authors

Affiliations

¹ Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia; School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2522, Australia.
² University of Sydney ANZAC Research Institute, Concord Repatriation General Hospital, Sydney, Australia.
³ Macquarie University Centre for Motor Neuron Disease Research, Macquarie University Faculty of Medicine and Health Sciences, NSW 2109, Australia.
⁴ Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia; School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2522, Australia. Electronic address: [email protected].

PMID: 31445393
DOI: 10.1016/j.scr.2019.101530

Abstract

Dermal fibroblasts from a 59 year old male patient with amyotrophic lateral sclerosis (symptomatic at the time of collection), attributed to a mutation in the cyclin F gene (CCNF^S621G), were reprogrammed using mRNA and microRNA-delivered OSKM factors to induced pluripotent stem cells (iPSCs). The generated iPSCs were confirmed pluripotent, expressing typical pluripotency markers and were capable of three germ layer differentiation. This is the first reported reprogramming of cells with a mutation in the cyclin F gene, and represents a novel resource for the study of amyotrophic lateral sclerosis.

Publication types

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

MeSH terms

Amyotrophic Lateral Sclerosis / genetics
Amyotrophic Lateral Sclerosis / pathology*
Cell Differentiation
Cell Line
Cellular Reprogramming
Cyclins / genetics*
Dermis / cytology*
Fibroblasts / cytology
Germ Layers / cytology
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Karyotype
Male
Middle Aged
Polymorphism, Single Nucleotide

Substances

CCNF protein, human
Cyclins