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 in | Stem cell research Vol. 62; p. 102786 |
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Main Authors | , , , , , , , , , , , , |
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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. |
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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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References | Ababneh, Ali, Al-Kurdi, Barham, Bsisu, Dababseh, Arafat, Khanfar, Makahleh, Ryalat, Sallam, El-Khateeb, Sharrack, Awidi (b0020) 2021; 523 Ababneh, Al-Kurdi, Ali, Abuarqoub, Barham, Salah, Awidi (b0010) 2020; 47 Ababneh, Al-Kurdi, Ali, Abuarqoub, Barham, Alzibdeh, Awidi (b0005) 2020; 48 Braathen, Sand, Lobato, Høyer, Russell (b0025) 2010; 11 Ababneh, Al-Kurdi, Ali, Barham, Sharar, Mrahleh, Awidi (b0015) 2020; 48 Ababneh (10.1016/j.scr.2022.102786_b0015) 2020; 48 Braathen (10.1016/j.scr.2022.102786_b0025) 2010; 11 Ababneh (10.1016/j.scr.2022.102786_b0005) 2020; 48 Ababneh (10.1016/j.scr.2022.102786_b0010) 2020; 47 Ababneh (10.1016/j.scr.2022.102786_b0020) 2021; 523 |
References_xml | – volume: 11 year: 2010 ident: b0025 article-title: MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families publication-title: BMC Med. Genet. contributor: fullname: Russell – volume: 523 start-page: 330 year: 2021 end-page: 338 ident: b0020 article-title: The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan publication-title: Clin. Chim. Acta contributor: fullname: Awidi – volume: 48 year: 2020 ident: b0015 article-title: Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi011-A) from skin fibroblasts of a healthy Jordanian male subject publication-title: Stem Cell Res. contributor: fullname: Awidi – volume: 47 year: 2020 ident: b0010 article-title: Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi010-A) from a healthy Jordanian female skin dermal fibroblasts publication-title: Stem Cell Res. contributor: fullname: Awidi – volume: 48 year: 2020 ident: b0005 article-title: 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 publication-title: Stem Cell Res. contributor: fullname: Awidi – volume: 48 year: 2020 ident: 10.1016/j.scr.2022.102786_b0015 article-title: Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi011-A) from skin fibroblasts of a healthy Jordanian male subject publication-title: Stem Cell Res. doi: 10.1016/j.scr.2020.101923 contributor: fullname: Ababneh – volume: 47 issue: June year: 2020 ident: 10.1016/j.scr.2022.102786_b0010 article-title: Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi010-A) from a healthy Jordanian female skin dermal fibroblasts publication-title: Stem Cell Res. contributor: fullname: Ababneh – volume: 523 start-page: 330 year: 2021 ident: 10.1016/j.scr.2022.102786_b0020 article-title: The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan publication-title: Clin. Chim. Acta doi: 10.1016/j.cca.2021.10.001 contributor: fullname: Ababneh – volume: 48 year: 2020 ident: 10.1016/j.scr.2022.102786_b0005 article-title: 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 publication-title: Stem Cell Res. doi: 10.1016/j.scr.2020.101925 contributor: fullname: Ababneh – volume: 11 issue: 1 year: 2010 ident: 10.1016/j.scr.2022.102786_b0025 article-title: MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families publication-title: BMC Med. Genet. doi: 10.1186/1471-2350-11-48 contributor: fullname: Braathen |
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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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