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)

Gerson S Kobayashi; Gleiciele A Vieira-Silva; Elisa Varella-Branco; Danielle P Moreira; João Paulo F W Kitajima; Claudia R M L Hemza; Regina C Mingroni-Netto; Fernando H Lojudice; Jeanne Oiticica; Ricardo F Bento; Ana C Batissoco; Karina Lezirovitz

doi:10.1016/j.scr.2023.103181

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)

Stem Cell Res. 2023 Sep:71:103181. doi: 10.1016/j.scr.2023.103181. Epub 2023 Aug 9.

Affiliations

¹ 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.
² 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.
³ Mendelics Genomic Analysis, São Paulo 02511-000, Brazil.
⁴ Otorhinolaryngology/LIM32, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo 01246-000, Brazil.
⁵ Cell and Molecular Therapy Center (NUCEL), Medical School, University of São Paulo, São Paulo, SP 05360-130 Brazil.
⁶ 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.
⁷ 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. Electronic address: Karina.lezirovitz@hc.fm.usp.br.

PMID: 37595341
DOI: 10.1016/j.scr.2023.103181

Abstract

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.

Publication types

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

MeSH terms

Exons
Hearing
Hearing Loss* / genetics
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear