• Mutation; HGNC; 7427; MT-CYB; Simple; p.Asp171Asn (m.15257G>A); ClinVar=VCV000009674; Zygosity=Heteroplasmic (from child cell line KUCFRi003-A).
  

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PubMed=30471880; DOI=10.1016/j.kint.2018.08.038
Johnson S.C., Martinez F., Bitto A., Gonzalez B., Tazaerslan C., Cohen C., Delaval L., Timsit J., Knebelmann B., Terzi F., Mahal T., Zhu Y.-Z., Morgan P.G., Sedensky M.M., Kaeberlein M., Legendre C., Suh Y., Canaud G.
mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.
Kidney Int. 95:455-466(2019)

PubMed=34091428; DOI=10.1016/j.scr.2021.102392
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Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation.
Stem Cell Res. 54:102392-102392(2021)