Open AccessModeling and Rescue of the Vascular Phenotype of Williams‐Beuren Syndrome in Patient Induced Pluripotent Stem Cells
Author(s) -
Kinnear Caroline,
Chang Wing Y.,
Khattak Shahryar,
Hinek Aleksander,
Thompson Tadeo,
de Carvalho Rodrigues Deivid,
Kennedy Karen,
Mahmut Naila,
Pasceri Peter,
Stanford William L.,
Ellis James,
Mital Seema
Publication year - 2013
Publication title -
stem cells translational medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.781
H-Index - 71
eISSN - 2157-6580
pISSN - 2157-6564
DOI - 10.5966/sctm.2012-0054
Subject(s) - induced pluripotent stem cell , biology , reprogramming , microbiology and biotechnology , cellular differentiation , phenotype , haploinsufficiency , elastin , population , cancer research , cell , embryonic stem cell , genetics , medicine , gene , environmental health
The objective of this study was to generate a human induced pluripotent stem cell model for in vitro assessment of the Williams‐Beuren syndrome (WBS) phenotype and to test the ability of candidate agents to rescue the phenotype. It was found that the abnormal smooth muscle phenotype associated with WBS could be reproduced in vitro in smooth muscle cells derived from reprogrammed skin fibroblasts from a WBS patient. This study provides a valuable in vitro platform to model a genetic disorder associated with smooth muscle proliferation and vascular abnormalities and to test the in vitro efficacy of drugs that act downstream of the defective gene.