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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wu S, Zhu T, Sun Z, Wei X, Han X, Zou X, Sui R
Journal Stem cell research
Publication Date 2021 May;53:102330
PubMed 33857831
DOI 10.1016/j.scr.2021.102330

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