Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient

Joe Davis Velchev; Aline Verstraeten; Josephina Meester; Peter Ponsaerts; Julie Richer; Maaike Alaerts; Bart Loeys

doi:10.1016/j.scr.2022.102932

Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient

Stem Cell Res. 2022 Oct:64:102932. doi: 10.1016/j.scr.2022.102932. Epub 2022 Oct 4.

Authors

Joe Davis Velchev¹, Aline Verstraeten¹, Josephina Meester¹, Peter Ponsaerts², Julie Richer³, Maaike Alaerts¹, Bart Loeys⁴

Affiliations

¹ Cardiogenomics, Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
² Laboratory of Experimental Hematology, Vaccine and Infectious Disease Institute, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
³ Department of Medical Genetics, Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
⁴ Cardiogenomics, Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address: [email protected].

PMID: 36219981
DOI: 10.1016/j.scr.2022.102932

Abstract

Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder. The major hallmark of LDS is thoracic aortic aneurysm and dissection (TAAD). We generated an induced pluripotent stem cell (iPSC) line of a severely affected LDS patient carrying a pathogenic SMAD3 p.Arg287Gln variant. Peripheral blood mononuclear cells were reprogrammed using non-integrating Sendai viral vectors. The autonomous pluripotency state of the resulting iPSC model was proven by the presence of pluripotency markers, trilineage differentiation potential and absence of the Sendai vector backbone. This iPSC line can be used to study and/or therapeutically target the cellular pathomechanisms of SMAD3-related LDS.

MeSH terms

Cell Differentiation
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear
Loeys-Dietz Syndrome* / genetics
Loeys-Dietz Syndrome* / metabolism