Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene.

Abstract

We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S mutation. Fibroblasts were reprogrammed using non-integrating Sendai virus vectors. The iPSC line displayed normal molecular karyotype, expressed pluripotency markers, is capable of differentiating into three embryonic germ layers and is genetically identical to the originating parental fibroblasts. The established iPSC model provides a valuable resource for studying the rare disease of epidermolysis bullosa simplex and developing new therapies as DNA editing by CRISPR/Cas9 technology.

• Authors: Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Jack Puymirat, Catherine Laprise
• Journal: Stem cell research (Stem Cell Res) Vol. 44 Pg. 101748 (04 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32179493 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Chemical References

• KRT14 protein, human
• Keratin-14

Topics

• Cell Line
• Epidermolysis Bullosa Simplex (genetics)
• Heterozygote
• Humans
• Induced Pluripotent Stem Cells
• Keratin-14 (genetics)
• Male
• Mutation
• Phenotype