The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene

Waite, Adrian J., Millar, David and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2020. The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Research 49 , 102018. 10.1016/j.scr.2020.102018

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Abstract

FOXG1 syndrome is a neurodevelopmental disorder caused by mutations in the FOXG1 gene. Here, an induced pluripotent stem cell (iPSC) line was generated from human dermal fibroblasts of an individual with the c.490dupG (p.Glu154fs) mutation in the FOXG1 gene. Fibroblasts were reprogrammed using non-integrating episomal plasmids and pluripotency marker expression was confirmed by both immunocytochemistry and quantitative PCR in the resultant iPSC line. There were no karyotypic abnormalities and the cell line successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin FOXG1 syndrome.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Elsevier
ISSN:	1873-5061
Date of First Compliant Deposit:	22 October 2020
Date of Acceptance:	27 September 2020
Last Modified:	08 May 2023 01:54
URI:	https://orca.cardiff.ac.uk/id/eprint/135850

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