Generation of an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation


Mutations in FBN1 (gene encodes the matrix protein fibrillin 1), are usually associated with Marfan syndrome (MS). This syndrome contains ocular, skeletal, cardiovascular, pulmonary, cutaneous and neurological abnormalities. Here, we introduced an induced pluripotent stem cell (iPSC) line from a patient who suffered from severe cardiovascular disease and carried a c.6734G > A mutation in FBN1. Dermal fibroblasts of the patient were reprogrammed with non-integrating Sendai virus (SeV). Generated iPSC line exhibited normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and was capable of differentiating into three germ layers. This iPSC line will be a valuable tool for studying MS. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Pan Z, Wang H, Wang H, Liu Y, Liang P
Journal Stem cell research
Publication Date 2021 Aug;55:102459
PubMed 34298435
DOI 10.1016/j.scr.2021.102459

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