Stem Cell Research (Feb 2023)

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

Journal volume & issue
Vol. 66
p. 103009

Abstract

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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.