从 DFNA58 家族成员的 PBMC 中生成 4 个人诱导多能干细胞系：2 个听力受损的重复携带者（USPi006-A 和 USPi007-A）和 2 个听力正常的非携带者（USPi004-A 和 USPi005-A）。
Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A).
机构信息
Centro de Pesquisa Sobre o Genoma Humano e Células-Tronco (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo 05508-090, Brazil.
Otorhinolaryngology/LIM32, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo 01246-000, Brazil; Departamento de Otorrinolaringologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo-SP, Brazil.
出版信息
Stem Cell Res. 2023 Sep;71:103181. doi: 10.1016/j.scr.2023.103181. Epub 2023 Aug 9.
The DFNA58 locus contains a genomic duplication involving three protein-coding genes (CNRIP1, PLEK, and PPP3R1's exon 1) and other uncharacterized lncRNA genes (LOC101927723, LOC107985892 and LOC102724389). To clarify the role of these genes in hearing and precisely determine their role in hearing loss, four iPSC lines were generated from two carriers and two noncarriers of the duplication.
DFNA58 基因座包含一个基因组重复，涉及三个编码蛋白的基因（CNRIP1、PLEK 和 PPP3R1 的外显子 1）和其他未被描述的 lncRNA 基因（LOC101927723、LOC107985892 和 LOC102724389）。为了阐明这些基因在听力中的作用，并准确确定它们在听力损失中的作用，我们从两个携带者和两个非携带者中生成了四个 iPSC 系。
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