Generation of human induced pluripotent stem cell line (MUi026-A) from a patient with autosomal dominant polycystic kidney disease carrying PKD1 point mutation

Autor: Warun Maneepitasut, Wasinee Wongkummool, Pirut Tong-ngam, Kornkanok Promthep, Alisa Tubsuwan, Aung Khine Linn, Bunyong Phakdeekitcharoen, Suparerk Borwornpinyo, Narisorn Kitiyanant, Phetcharat Phanthong, Suradej Hongeng
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 53, Iss , Pp 102306- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102306
Popis: Autosomal dominant polycystic kidney disease (ADPKD) is one of the common genetic kidney disorders that are caused by mutations in PKD1 or PKD2 gene. In this report, the MUi026-A human induced pluripotent stem cell (hiPSC) line was established from the skin fibroblasts of a female ADPKD patient who had the PKD1 mutation with c.5878C > T. The iPSC line retained normal karyotype. The cells displayed embryonic stem cell-like characteristics with pluripotency marker expression and were able to differentiate into three germ layers.
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