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

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

Author information

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.

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.

PMID:
29453128
DOI:
10.1016/j.scr.2018.01.004
[Indexed for MEDLINE]
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