Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration

Selin Pars; Fernando Cristo; José M Inácio; Graça Rosas; Isabel Marques Carreira; Joana Barbosa Melo; Patrícia Mendes; Duarte Saraiva Martins; Luís Pereira de Almeida; José Maio; Rui Anjos; José A Belo

doi:10.1016/j.scr.2018.04.015

Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration

Stem Cell Res. 2018 May:29:202-206. doi: 10.1016/j.scr.2018.04.015. Epub 2018 Apr 28.

Affiliations

¹ Stem Cells and Development Laboratory, CEDOC, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.
² Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC.IBILI Consortium, University of Coimbra, Coimbra, Portugal; CIMAGO - Center of Investigation on Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Portugal.
³ Departamento Materno-Infantil, Centro Hospital do Algarve, EPE, Faro, Portugal.
⁴ Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.
⁵ CNC - Center for Neurosciences & Cell Biology, University of Coimbra, Coimbra, Portugal.
⁶ Stem Cells and Development Laboratory, CEDOC, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal. Electronic address: jose.belo@nms.unl.pt.

PMID: 29730570
DOI: 10.1016/j.scr.2018.04.015

Abstract

A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype stability, and the transgene-free status of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in DAND5-associated cardiac disease.

Publication types

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

MeSH terms

Cell Line
Cellular Reprogramming Techniques*
Heart Diseases* / genetics
Heart Diseases* / metabolism
Heart Diseases* / pathology
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Intercellular Signaling Peptides and Proteins* / genetics
Intercellular Signaling Peptides and Proteins* / metabolism
Male

Substances

DAND5 protein, human
Intercellular Signaling Peptides and Proteins