Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1

Autosomal dominant polycystic kidney disease is one of the most prevalent forms of inherited cystic kidney disease, and can be characterized by kidney cyst formation and enlargement. Here we report the generation of a Type 1 ADPKD disease iPS cell line, IBMS-iPSC-012-12, which retains the conserved...

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Bibliographic Details
Published in:Stem cell research 2017-10, Vol.24 (C), p.139-143
Main Authors: Huang, Ching-Ying, Ho, Ming-Ching, Lee, Jia-Jung, Hwang, Daw-Yang, Ko, Hui-Wen, Cheng, Yu-Che, Hsu, Yu-Hung, Lu, Huai-En, Chen, Hung-Chun, Hsieh, Patrick C.H.
Format: Article
Language:English
Subjects:
Adult
Cell Line
Humans
Induced Pluripotent Stem Cells - metabolism
Male
Mutation
Polycystic Kidney, Autosomal Dominant - genetics
Polycystic Kidney, Autosomal Dominant - metabolism
Polycystic Kidney, Autosomal Dominant - pathology
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Summary:Autosomal dominant polycystic kidney disease is one of the most prevalent forms of inherited cystic kidney disease, and can be characterized by kidney cyst formation and enlargement. Here we report the generation of a Type 1 ADPKD disease iPS cell line, IBMS-iPSC-012-12, which retains the conserved deletion of PKD1, normal karyotype and exhibits the properties of pluripotent stem cells such as ES-like morphology, expression of pluripotent markers and capacity to differentiate into all three germ layers. Our results show that we have successfully generated a patient-specific iPS cell line with a mutation in PKD1 for study of renal disease pathophysiology.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2017.09.004