Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A)
Issued Date
2024-08-01
Resource Type
ISSN
18735061
eISSN
18767753
Scopus ID
2-s2.0-85194156683
Journal Title
Stem Cell Research
Volume
78
Rights Holder(s)
SCOPUS
Bibliographic Citation
Stem Cell Research Vol.78 (2024)
Suggested Citation
Pongpaksupasin P., Tong-Ngam P., Jearawiriyapaisarn N., Paiboonsukwong K., Sangkitporn S., Trinavarat A., Tubsuwan A., Atchaneeyasakul L.O. Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A). Stem Cell Research Vol.78 (2024). doi:10.1016/j.scr.2024.103448 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/98561
Title
Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A)
Corresponding Author(s)
Other Contributor(s)
Abstract
Mutations in the eyes shut homolog (EYS) gene are one of the common causes of autosomal recessive retinitis pigmentosa (RP). The lack of suitable animal models hampers progress understanding of the disease mechanism and drug development. This study reported the reprogramming of CD34+ hematopoietic stem/progenitor cells from a patient with compound heterozygous EYS mutations (c.6416 G > A and c.7228 + 1 G > A) into the induced pluripotent stem cell line, MUi038-A, using non-integrating vectors. The MUi038-A demonstrates pluripotency, tri-lineage differentiation potential, and a normal karyotype, offering a valuable model for studying the mechanism of EYS-related RP and new therapeutic development.