Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation

生成无整合 iPSC 系 ICCSICi006-A,源自携带 PSEN1-G206D 突变的男性阿尔茨海默病患者

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作者:Eva Díaz-Guerra, Manuel A Oria-Muriel, Elena P Moreno-Jiménez, Itziar de Rojasb, César Rodríguez, Eva Rodríguez-Traver, María Orera, Isabel Hernándezb, Agustín Ruizb, Carlos Vicario

Abstract

The familial form of Alzheimer's disease (FAD), which is caused by mutations in PRESENILIN 1 (PSEN1) and amyloid precursor protein (APP) genes, represents less than 5% of all AD cases and has an early-onset. We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation. The iPSC line maintained the original genotype, a normal karyotype, was free from Sendai viral vectors and reprogramming factors (OCT4, SOX2, KLF4 and c-MYC), presented a typical morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming its pluripotency.

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