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Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A)

Thimm, Chantelle; Zhong, Chutong; Wruck, Wasco; Grillo, Alessandra; Mack, Rosanne; Bohndorf, Martina; Graffmann, Nina; ... Adjaye, James; + view all (2025) Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A). Stem Cell Research , 87 , Article 103760. 10.1016/j.scr.2025.103760. (In press). Green open access

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Abstract

SIX2-positive urine-derived renal progenitor cells (UdRPCs) were isolated from an 18-year-old Bartter syndrome type 3 (BS3) patient within a homozygous CLCNKB gene deletion. Two episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28 we were able to generate an integration-free induced pluripotent stem cell line (iPSC). Pluripotency was confirmed by fluorescence-activated cell sorting analysis and immunocytochemistry for the markers-OCT4, SOX2, NANOG, TRA-1-60, TRA-1-81 and SSEA4. Embryoid body-based differentiation into the three germ layers was the conducted and confirmed by immunocytochemistry. Pluritest analysis revealed a Pearson correlation of 0,93. Short tandem repeat DNA fingerprinting and karyotype analyses were performed.

Type: Article
Title: Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A)
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.scr.2025.103760
Publisher version: https://doi.org/10.1016/j.scr.2025.103760
Language: English
Additional information: © The Author(s), 2025. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licence (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Department of Imaging
URI: https://discovery.ucl.ac.uk/id/eprint/10210880
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