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

Stem cell research

article

Pauline De Kinderen¹  Laura Rabaut¹  Anne Hebert¹  Peter Ponsaerts²  Melanie Perik¹  Josephina A.N. Meester¹ 

[1] Center of Medical Genetics, University of Antwerp and Antwerp University Hospital;Laboratory of Experimental Hematology, Vaccine and Infectious Disease Institute ,(Vaxinfectio), University of Antwerp

DOI  :  10.1016/j.scr.2022.103009

学科分类：生理学

来源: Academic Press

【 摘 要 】

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.

【 授权许可】

CC BY|CC BY-NC-ND