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

•FBN1 gene mutation is associated with intracranial arterial dissection.•FBN1c.1858C > T (p. Pro620Ser) is a novel discovered mutation site of intracranial arterial dissection.•The iPSC can be used as a disease model for future research. Mutation of FBN1 has certain relation with the incidence of...

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Bibliographic Details
Published in:Stem cell research 2022-05, Vol.61, p.102759-102759, Article 102759
Main Authors: Lin, Aiqi, Kang, Xiaocui, Xu, Yi, Feng, Xiaochao, Zhang, Shufan, Zhao, Hongchen, Wu, Danhong, Han, Xiang
Format: Article
Language:English
Subjects:
Cell Line
Humans
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Mutation - genetics
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Summary:•FBN1 gene mutation is associated with intracranial arterial dissection.•FBN1c.1858C > T (p. Pro620Ser) is a novel discovered mutation site of intracranial arterial dissection.•The iPSC can be used as a disease model for future research. 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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102759