Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants


Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP). Here, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from a RP patient with compound heterogeneous USH2A variants and a USH2 patient with homozygous USH2A variant. Blood samples were obtained and peripheral blood mononuclear cells (PBMCs) were reprogrammed using the non-integrative Sendai virus to generate the iPSC lines. The established hiPSC lines retained the disease-associated variants and showed normal karyotype, pluripotency and differentiation capacity. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhu T, Wu S, Sun Z, Wei X, Han X, Zou X, Sui R
Journal Stem cell research
Publication Date 2021 Aug;55:102502
PubMed 34419747
DOI 10.1016/j.scr.2021.102502

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