Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant

Autor: Serena Calamaio, Marialaura Serzanti, Silvia Morlino, Marialuisa Massardi, Marco Ritelli, Giovanna Piovani, Marina Colombi, Venusia Cortellini, Marco Castori, Patrizia Dell'Era, Lucia Micale
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Stem Cell Research, Vol 63, Iss , Pp 102837- (2022)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2022.102837
Popis: TAK1 is a serine threonine kinase that mediates signal transduction induced by TGFβ and bone morphogenetic proteins, and controls a variety of cell functions by modulating the downstream activation of NF-kkB, JNK, and p38. Heterozygous variants in the coding MAP3K7 gene cause the cardiospondylocarpofacial syndrome, characterized by various abnormalities. Skin fibroblasts derived from a patient carrying the MAP3K7 c.737-7A>G heterozygous variant were reprogrammed using Sendai viral vector system carrying the Yamanaka factors. The generated induced pluripotent stem cells (iPSC) line retained the original genotype, expressed pluripotency markers, and differentiated into cells of the three germ layers.
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