Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene

Stem Cell Research - Tập 70 - Trang 103129 - 2023
Hiroki Ura1,2, Sumihito Togi1,2, Mamoru Ozaki2, Hisayo Hatanaka1, Yo Niida1,2
1Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan
2Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan

Tài liệu tham khảo

Lahiri, 1993, Schnabel B DNA isolation by a rapid method from human blood samples: effects of MgCl2, EDTA, storage time, and temperature on DNA yield and quality, Biochem Genet, 31, 321, 10.1007/BF00553174 Nakagawa, 2014, A novel efficient feeder-free culture system for the derivation of human induced pluripotent stem cells, Sci Rep., 4, 3594, 10.1038/srep03594 Togi, 2022, Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex, Int J Mol Sci., 23, 11175, 10.3390/ijms231911175