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
(Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a homozygous missense mutation in the MPV17 gene (c. 122G > A, p.Arg41Gln). These fibroblasts were reprogrammed using Sendai viruses that encoded OCT4, SOX2, KLF4, and c-MYC reprogramming factors. The iPSCs demonstrated normal morphology and karyotype, expressed pluripotency markers, and the ability to differentiate into the three germ layers. This iPSC line is valuable for investigating the mechanisms underlying CMT2EE.
Authors
- Sabal Al Hadidi
- Raghda Barham (ORCID: https://orcid.org/0000-0003-4183-8638)
- Adan Madadha
- Ban Al-Kurdi
- Amira Masri (ORCID: https://orcid.org/0000-0001-6103-8713)
- Ahmed Abdulelah (ORCID: https://orcid.org/0000-0001-9474-1106)
- Nidaa A. Ababneh (ORCID: https://orcid.org/0000-0002-2155-3013)
- Abdalla Awidi
- Dema Ali
Institutions
- University of Jordan (JO)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-10-22
- DOI
- https://doi.org/10.1016/j.scr.2024.103602
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deanship of Scientific Research, University of Jordan