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

Female Humans Induced Pluripotent Stem Cells Mutation Point Mutation Polycystic Kidney, Autosomal Dominant / genetics TRPP Cation Channels / genetics

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
05 2021
Historique:
received: 23 02 2021
revised: 12 03 2021
accepted: 14 03 2021
pubmed: 3 4 2021
medline: 1 7 2021
entrez: 2 4 2021
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.scr.2021.102306 PMID: 33799277
pubmed: 33799277
pii: S1873-5061(21)00152-5
doi: 10.1016/j.scr.2021.102306
pii:
doi:

Substances chimiques

TRPP Cation Channels 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

102306

Informations de copyright

Copyright © 2021. Published by Elsevier B.V.

Auteurs

Warun Maneepitasut (W)

Molecular Medicine Program, Multidisciplinary Unit, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.

Wasinee Wongkummool (W)

Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.

Pirut Tong-Ngam (P)

Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.

Kornkanok Promthep (K)

Research Center for Neuroscience, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.

Alisa Tubsuwan (A)

Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.

Aung Khine Linn (A)

Excellent Center for Drug Discovery, Faculty of Science, Mahidol University, Bangkok 10400 Thailand.

Bunyong Phakdeekitcharoen (B)

Division of Nephrology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

Suparerk Borwornpinyo (S)

Excellent Center for Drug Discovery, Faculty of Science, Mahidol University, Bangkok 10400 Thailand; Department of Biotechnology, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.

Narisorn Kitiyanant (N)

Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand. Electronic address: narisorn.kit@mahidol.ac.th.

Phetcharat Phanthong (P)

Department of Anatomy, Faculty of Science, Mahidol University, Bangkok 10400, Thailand. Electronic address: phetcharat.pha@mahidol.edu.

Suradej Hongeng (S)

Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Generation of human induced pluripotent stem...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Generation of human induced pluripotent stem...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Generation of human induced pluripotent stem...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › Generation of human induced pluripotent stem...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Ciliopathies › Polykystoses rénales › Polykystose rénale autosomique dominante › Generation of human induced pluripotent stem...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux cationiques TRP › Canaux cationiques TRPP › Generation of human induced pluripotent stem...