Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

Arantxa Bolinches-Amorós; Dunja Lukovic; Ana Artero Castro; Marian León; Kunka Kamenarova; Radka Kaneva; Pavla Jendelova; Fiona Blanco-Kelly; Carmen Ayuso; Marta Cortón; Slaven Erceg

doi:10.1016/j.scr.2018.01.004

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

Stem Cell Res. 2018 Apr:28:96-99. doi: 10.1016/j.scr.2018.01.004. Epub 2018 Jan 4.

Authors

Affiliations

¹ National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Centre Principe Felipe, c/Eduardo Primo Yúfera 3, Valencia 46012, Spain.
² Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University of Sofia, Sofia 1463, Bulgaria.
³ Department of Tissue Cultures and Stem Cells, Institute of Experimental Medicine, Academy of Science of the Czech Republic, Prague, Czech Republic.
⁴ Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
⁵ National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Centre Principe Felipe, c/Eduardo Primo Yúfera 3, Valencia 46012, Spain; Department of Tissue Cultures and Stem Cells, Institute of Experimental Medicine, Academy of Science of the Czech Republic, Prague, Czech Republic; Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center Principe Felipe, c/Eduardo Primo Yufera 3, Valencia 46012, Spain. Electronic address: serceg@cipf.es.

PMID: 29453128
DOI: 10.1016/j.scr.2018.01.004

Abstract

The human iPSC cell line, GLC-FiPS4F1 (ESi047-A), derived from dermal fibroblast from the patient with congenital glaucoma caused by the mutation of the gene CYP1B1, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors.

Publication types

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

MeSH terms

Adult
Cell Culture Techniques / methods*
Cell Differentiation
Cell Line
Cellular Reprogramming
Cytochrome P-450 CYP1B1 / genetics*
Fibroblasts / metabolism
Glaucoma / congenital*
Glaucoma / genetics*
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Kruppel-Like Factor 4
Male
Mutation / genetics*
Mycoplasma / isolation & purification

Substances

KLF4 protein, human
Kruppel-Like Factor 4
CYP1B1 protein, human
Cytochrome P-450 CYP1B1