Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene
Year: 2024
Type: article
Abstract: Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation. Here, we corrected the mutation sites in PRPF8 (c.C5792T) using an adenine base editor and then generated an isogenic control (CSUASOi006-A-1), which is a valuable cell resource for research of RP.
Source: Stem Cell Research
Institutions: Central South University, Xiangya Hospital Central South University, Aier Eye Hospital Group (China), Second Xiangya Hospital of Central South University, Chinese Academy of Medical Sciences & Peking Union Medical College, Affiliated Hospital of Jining Medical University, Jinan University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,320
OpenAlex ID: W4403117271