Generation and characterization of a pluripotent stem cell line CIPi005-A derived from a female patient carrying non-canonical splice site c.827 + 1G > A in WDR45
β-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease with developmental retardation, epilepsy and extrapyramidal symptoms, associated with mutations in WDR45. In this article, we generated an iPSC line from peripheral blood mononuclear cells (PBMCs) of a 3-year-old girl who carries a splice site mutation c.827 + 1G > A in WDR45. The generated iPSC exhibited high expression of pluripotency genes, a normal karyotype, good ability of embryoid bodies differentiation.
Authors
- Y. Gao (ORCID: https://orcid.org/0000-0001-6326-4773)
- Jiayu Chen
- Yunzhe Kang (ORCID: https://orcid.org/0000-0003-3852-219X)
- Peipei Zhang (ORCID: https://orcid.org/0000-0003-1742-1680)
- Qian Chen (ORCID: https://orcid.org/0000-0003-4966-6340)
- Jie Fang (ORCID: https://orcid.org/0000-0003-1301-6215)
- Yin Li (ORCID: https://orcid.org/0000-0001-8203-1123)
Institutions
- Peking University (CN)
- Capital Institute of Pediatrics (CN)
- Shanghai First Maternity and Infant Hospital (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-02-15
- DOI
- https://doi.org/10.1016/j.scr.2025.103686
- Citations
- 1
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Natural Science Foundation of Beijing Municipality