Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations

Shijing Wu; Tian Zhu; Zixi Sun; Xing Wei; Xiaoxu Han; Xuan Zou; Ruifang Sui

doi:10.1016/j.scr.2021.102330

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations

Stem Cell Res. 2021 May:53:102330. doi: 10.1016/j.scr.2021.102330. Epub 2021 Apr 7.

Authors

Shijing Wu¹, Tian Zhu¹, Zixi Sun¹, Xing Wei¹, Xiaoxu Han¹, Xuan Zou¹, Ruifang Sui²

Affiliations

¹ Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
² Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: hrfsui@163.com.

PMID: 33857831
DOI: 10.1016/j.scr.2021.102330

Abstract

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited progressive retinal disease. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of BCD patient with CYP4V2 mutations. The reprogramming of this iPSC line was performed from skin fibroblast by using the Sendai-virus based approach. The established hiPSC line retained the disease-associated mutations and showed normal karyotype, pluripotency and differentiation capacity.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Corneal Dystrophies, Hereditary
Cytochrome P450 Family 4 / genetics
DNA Mutational Analysis
Humans
Induced Pluripotent Stem Cells*
Mutation / genetics
Retinal Diseases* / genetics

Substances

CYP4V2 protein, human
Cytochrome P450 Family 4

Supplementary concepts

Bietti Crystalline Dystrophy