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 pat...

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Bibliographic Details
Published in:Stem Cell Research
Main Authors: Ziwei Pan, Hongkun Wang, Hao Wang, Yong Liu, Ping Liang
Format: Article
Language:English
Published: Elsevier 2021-08-01
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121003068
Description
Summary: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.
ISSN:1873-5061

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