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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.
Ababneh NA, Barham R, Al-Kurdi B, Ali D, Hadidi SA, A Ismail M, Muamar ASH, Abdulelah AA, Madadha A, Sallam M, Hassona Y, Masri A, Awidi A. Ababneh NA, et al. Among authors: barham r. Stem Cell Res. 2022 Jul;62:102786. doi: 10.1016/j.scr.2022.102786. Epub 2022 Apr 12. Stem Cell Res. 2022. PMID: 35468369 Free article.
Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.
Abu-Ameerh M, Mohammad H, Dardas Z, Barham R, Ali D, Bijawi M, Tawalbeh M, Amr S, Hatmal MM, Al-Bdour M, Awidi A, Azab B. Abu-Ameerh M, et al. Among authors: barham r. Mol Genet Genomic Med. 2020 Mar;8(3):e1123. doi: 10.1002/mgg3.1123. Epub 2020 Jan 22. Mol Genet Genomic Med. 2020. PMID: 31968401 Free PMC article.
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.
Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, Awidi A. Ababneh NA, et al. Among authors: barham r. Stem Cell Res. 2020 Oct;48:101925. doi: 10.1016/j.scr.2020.101925. Epub 2020 Jul 25. Stem Cell Res. 2020. PMID: 32769066 Free article.
Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene.
Ababneh NA, Ali D, Barham R, Al-Kurdi B, Sharar N, Al Hadidi S, Qanno' O, Ryalat AT, Salah B, Awidi A. Ababneh NA, et al. Among authors: barham r. Stem Cell Res. 2020 Oct;48:101967. doi: 10.1016/j.scr.2020.101967. Epub 2020 Aug 31. Stem Cell Res. 2020. PMID: 32916636 Free article.
60 results