Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2

Autor: Yu Guo, Jiaqi Li, Wenyi Xie, Huaping Huang, Jin-Jing Li, Wanhui Lin, Ying-Qian Lu
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Stem Cell Research, Vol 74, Iss , Pp 103268- (2024)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2023.103268
Popis: The human iPS cell line, hiPS-RTT (FJMUi002-A), is derived from peripheral blood mononuclear cells (PBMCs) from a 12-year-old female RTT patient carrying a heterozygous p. R133C (c.397C > T) mutation in the MeCP2 gene. The hiPS-RTT cell line was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC and was free of genomically integrated reprogramming genes. The hiPS-RTT cell line had a normal karyotype, expressed pluripotency markers, and had capacity to form three germ layers in vitro and in vivo, which offering a useful resource to study the pathogenesis and treatment strategies of RTT.
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