Human induced pluripotent stem cells derived from a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser)

Aiqi Lin; Xiaocui Kang; Yi Xu; Xiaochao Feng; Shufan Zhang; Hongchen Zhao; Danhong Wu; Xiang Han

Stem Cell Research (May 2022)

Human induced pluripotent stem cells derived from a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser)

Aiqi Lin,
Xiaocui Kang,
Yi Xu,
Xiaochao Feng,
Shufan Zhang,
Hongchen Zhao,
Danhong Wu,
Xiang Han

Affiliations

Aiqi Lin: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China
Xiaocui Kang: Department of Neurology, Shanghai Fifth People’s Hospital, Fudan University, Shanghai, China
Yi Xu: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; Department of Neurology, Shanghai Fifth People’s Hospital, Fudan University, Shanghai, China
Xiaochao Feng: Department of Neurology, Shanghai Fifth People’s Hospital, Fudan University, Shanghai, China
Shufan Zhang: Department of Neurology, Shanghai Jing’an District Hospital, Fudan University, Shanghai, China
Hongchen Zhao: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China
Danhong Wu: Department of Neurology, Shanghai Fifth People’s Hospital, Fudan University, Shanghai, China; Corresponding authors.
Xiang Han: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; Corresponding authors.

Journal volume & issue: Vol. 61
p. 102759

Abstract

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Mutation of FBN1 has certain relation with the incidence of cranial cervical artery dissection. Our study reprogrammed human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMC) of a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser). The generated iPSCs express pluripotent cell markers with no mycoplasma contamination. Besides, it has normal karyotype and could differentiate into mesoderm, endoderm and neuronal layers. We also identified it has the same specific mutation with our patient.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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