Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation

Pauline De Kinderen; Laura Rabaut; Anne Hebert; Peter Ponsaerts; Melanie Perik; Josephina A N Meester

doi:10.1016/j.scr.2022.103009

Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation

Stem Cell Res. 2023 Feb:66:103009. doi: 10.1016/j.scr.2022.103009. Epub 2022 Dec 21.

Authors

Pauline De Kinderen¹, Laura Rabaut¹, Anne Hebert¹, Peter Ponsaerts², Melanie Perik¹, Josephina A N Meester³

Affiliations

¹ Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
² Laboratory of Experimental Hematology, Vaccine and Infectious Disease Institute (Vaxinfectio), University of Antwerp, Antwerp, Belgium.
³ Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address: josephina.meester@uantwerpen.be.

PMID: 36599284
DOI: 10.1016/j.scr.2022.103009

Abstract

Meester-Loeys syndrome (MRLS) is an X-linked syndromic form of thoracic aortic aneurysm and dissection. Here, we report an iPSC line (BBANTWi009-A) of a boy carrying a hemizygous BGN mutation (chrX:153502980-153530518del, GRCh38) causing MRLS. iPSCs were generated from dermal fibroblasts by reprogramming with the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The generated iPSCs showed a normal karyotype, expressed pluripotency markers, were differentiated into the three germ layers and carried the original genotype.

Publication types

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

MeSH terms

Biglycan / genetics
Biglycan / metabolism
Cell Differentiation
Fibroblasts / metabolism
Genotype
Humans
Induced Pluripotent Stem Cells* / metabolism
Male
Mutation

Substances

BGN protein, human
Biglycan