Article
Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.
Stem cell research - 1 Apr 2020
Zhou Yalan, Ding Chengcheng, Xia Shutao, Jing Yutong, Mao Shengru, Liu Jian, Chen Juan, Chan Hon Fai, Tang Shibo, Chen Jiansu
Abstract excerpt
Crumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2809G>A p.A937T) in CRB1 gene was generated by non-integrative reprogramming technology....
Topics
- Eye Proteins
- Humans
- Induced Pluripotent Stem Cells
- Leukocytes, Mononuclear
- Membrane Proteins
- Mutation
- Nerve Tissue Proteins
- Retinitis Pigmentosa