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-Reference-Cited by-同舟云学术

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

Published:2020-10 Issue: Volume:48 Page:101925
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

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

Funder

University of Jordan

King Abdullah II for development

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference3 articles.

1. Systematic review of autosomal recessive ataxias and proposal for a classification;Beaudin;Cerebellum Ataxias,2017

2. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene;Date;Nat. Genet.,2001

3. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin;Moreira;Nat. Genet.,2001

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal and X-Linked Degenerative Ataxias: From Genetics to Promising Therapeutics;Contemporary Clinical Neuroscience;2023

2. Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene;Stem Cell Research;2022-07

3. Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings;Molecular Neurobiology;2022-04-14