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

Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozyg...

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Published inStem cell research Vol. 62; p. 102786
Main Authors Ababneh, Nidaa A., Barham, Raghda, Al-Kurdi, Ban, Ali, Dema, Hadidi, Sabal Al, A. Ismail, Mohammad, Muamar, Ahmed S.H., Abdulelah, Ahmed A., Madadha, Adan, Sallam, Malik, Hassona, Yazan, Masri, Amira, Awidi, Abdalla
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.07.2022
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Abstract Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease.
AbstractList Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease.
ArticleNumber 102786
Author Hassona, Yazan
Ali, Dema
Al-Kurdi, Ban
Sallam, Malik
Awidi, Abdalla
Hadidi, Sabal Al
Ababneh, Nidaa A.
A. Ismail, Mohammad
Abdulelah, Ahmed A.
Muamar, Ahmed S.H.
Madadha, Adan
Barham, Raghda
Masri, Amira
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Ababneh, Al-Kurdi, Ali, Abuarqoub, Barham, Salah, Awidi (b0010) 2020; 47
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Ababneh, Al-Kurdi, Ali, Barham, Sharar, Mrahleh, Awidi (b0015) 2020; 48
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Ababneh (10.1016/j.scr.2022.102786_b0010) 2020; 47
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Title 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
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