Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene

Nidaa A Ababneh; Ban Al-Kurdi; Dema Ali; Duaa Abuarqoub; Raghda Barham; Abdulla M Alzibdeh; Asim N Khanfar; Ahmad M Altantawi; Abdee T Ryalat; Basil Sharrack; Abdalla Awidi

doi:10.1016/j.scr.2020.101925

Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene

Stem Cell Res. 2020 Oct:48:101925. doi: 10.1016/j.scr.2020.101925. Epub 2020 Jul 25.

Authors

Affiliations

¹ Cell Therapy Center, The University of Jordan, Amman, Jordan. Electronic address: n.ababneh@ju.edu.jo.
² Cell Therapy Center, The University of Jordan, Amman, Jordan.
³ Cell Therapy Center, The University of Jordan, Amman, Jordan; Department of Pharmacology and Biomedical Sciences, Faculty of Pharmacy and Medical Sciences, University of Petra, Amman, Jordan.
⁴ School of Medicine, The University of Jordan, Amman, Jordan.
⁵ King Hussein Cancer Center, Amman, Jordan.
⁶ Academic Department of Neuroscience and Sheffield NIHR Neuroscience BRC, Royal Hallamshire Hospital and the University of Sheffield, Glossop Road, Sheffield S10 2JF, UK.
⁷ Cell Therapy Center, The University of Jordan, Amman, Jordan; Hemostasis and Thrombosis Laboratory, School of Medicine, The University of Jordan, Amman, Jordan; Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan.

PMID: 32769066
DOI: 10.1016/j.scr.2020.101925

Abstract

Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for the aprataxin protein. The aprataxin protein has been reported to be involved in DNA single-strand break repair (SSBR) machinery and it localizes to the mitochondria to preserve the mitochondrial function. Here, we demonstrate the generation of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from AOA1 patient's skin dermal fibroblasts. The selected line showed normal karyotype, expression of pluripotency markers and the ability to differentiatie in vitro into the three germ layers.

Publication types

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

MeSH terms

Cerebellar Ataxia* / genetics
DNA-Binding Proteins / genetics
Humans
Induced Pluripotent Stem Cells*
Mutation
Nuclear Proteins / genetics
Spinocerebellar Ataxias / congenital

Substances

APTX protein, human
DNA-Binding Proteins
Nuclear Proteins

Supplementary concepts

Spinocerebellar ataxia, autosomal recessive 1