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
Summary
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, Awidi A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Oct;48:101925 |
| PubMed | 32769066 |
| DOI | 10.1016/j.scr.2020.101925 |