JUCTCi002-A

A P E C

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Cell Line
hPSCreg name	JUCTCi002-A
Cite as:	JUCTCi002-A (RRID:CVCL_A9I3)
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	22nd December 2019
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Provider
Generator	the University of Jordan / Cell Therapy center (JUCTC)
External Databases
Cellosaurus	CVCL_A9I3
Wikidata	Q102114321
General Information
Publications	Ababneh NA et al. 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 research. 2020 Oct;48:101925. Aguillon D et al. 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 Jun;59(6):3845-3858. Hadji Anya et al. Autosomal and X-Linked Degenerative Ataxias: From Genetics to Promising Therapeutics. Contemporary Clinical Neuroscience. 2023-00-00. A Ababneh N et al. Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene. Stem cell research. 2024 Dec;81:103602.