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

doi:10.1016/j.scr.2022.102759

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

Stem Cell Res. 2022 May:61:102759. doi: 10.1016/j.scr.2022.102759. Epub 2022 Mar 23.

Authors

Aiqi Lin¹, Xiaocui Kang², Yi Xu³, Xiaochao Feng², Shufan Zhang⁴, Hongchen Zhao¹, Danhong Wu⁵, Xiang Han⁶

Affiliations

¹ Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
² Department of Neurology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China.
³ Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; Department of Neurology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China.
⁴ Department of Neurology, Shanghai Jing'an District Hospital, Fudan University, Shanghai, China.
⁵ Department of Neurology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China. Electronic address: danhongwu@fudan.edu.cn.
⁶ Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China. Electronic address: hansletter@fudan.edu.cn.

PMID: 35339882
DOI: 10.1016/j.scr.2022.102759

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Mutation / genetics