Generation of skin-derived iPSCs from an Osteogenesis imperfecta patient carrying WNT1c.677C>T mutation
10.3760/cma.j.cn511374-20230413-00210
- VernacularTitle:WNT1基因突变所致成骨不全症患者皮肤组织来源诱导多能干细胞系的建立
- Author:
Songjie DU
1
;
Xin GUAN
;
Meili ZHANG
;
Xiuli ZHAO
;
Yue HUANG
Author Information
1. 中国医学科学院基础医学研究所 北京协和医学院基础学院医学遗传学系，北京 100005
- Keywords:
Osteogenesis imperfecta;
WNT1 c. 677C>T mutation;
Induced pluripotent stem cell;
Sendai virus
- From:
Chinese Journal of Medical Genetics
2024;41(1):38-41
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To obtain skin-derived induced pluripotent stem cells (iPSCs) from an Osteogenesis imperfecta (OI) patient carrying WNT1c.677C>T mutation in order to provide a new cell model for investigating the underlying molecular mechanism and stem cell therapy for OI. Methods:The pathogenic variant of the patient was identified by Sanger sequencing. With informed consent from the patient, skin tissue was biopsied, and primary skin fibroblasts were cultured. Skin fibroblasts were induced into iPSCs using Sendai virus-mediated non-genomic integration reprogramming method. The iPSC cell lines were characterized for pluripotency, differentiation capacity, and karyotyping assay.Results:The patient was found to carry homozygous missense c. 677C>T (p.Ser226Leu) mutation of the WNT1 gene. The established iPSC lines possessed self-renewal and capacity for in vitro differentiation. It also has a diploid karyotype (46, XX). Conclusion:A patient-specific WNT1 gene mutation ( WNT1c.677C>T) iPSC line was established, which can provide a cell model for the study of OI caused by the mutation.
