A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene
Issued Date
2022-12-01
Resource Type
ISSN
18735061
eISSN
18767753
Scopus ID
2-s2.0-85141785542
Pubmed ID
36395688
Journal Title
Stem Cell Research
Volume
65
Rights Holder(s)
SCOPUS
Bibliographic Citation
Stem Cell Research Vol.65 (2022)
Suggested Citation
Pongpaksupasin P., Wongkummool W., Tong-Ngam P., Jearawiriyapaisarn N., Paiboonsukwong K., Sangkitporn S., Trinavarat A., Atchaneeyasakul L.O., Tubsuwan A. A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene. Stem Cell Research Vol.65 (2022). doi:10.1016/j.scr.2022.102964 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/83515
Title
A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene
Other Contributor(s)
Abstract
Choroideremia (CHM) is a monogenic, X-linked inherited retinal disease caused by mutations in the CHM gene. CHM patients develop progressive loss of vision due to degeneration of cell layers in the retina. In this report, the human-induced pluripotent stem cell, MUi032-A, was generated from CD34+ hematopoietic stem/progenitor cells of a male CHM patient by co-electroporation of non-integration episomal vectors containing OCT4/shp53, Sox-2/KLF4, and L-MYC/LIN-28. The MUi032-A showed normal karyotype and a hemizygous c.715C > T mutation. They expressed pluripotency markers and differentiated into cells derived from three germ layers. This cell line may be useful for disease mechanisms and gene therapy studies.