ID   USPi007-A
AC   CVCL_C9HR
SY   DFNA58-ipsc-dup2-cl5
DR   BioSamples; SAMEA112657232
DR   hPSCreg; USPi007-A
DR   Wikidata; Q123033763
RX   PubMed=37595341;
CC   From: Laboratory of Human Genetics, Institute of Biosciences; Sao Paulo; Brazil.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 34029; DFNA58; Unexplicit; 2p14-13.3(chr2:g.68475209_68676657)x3; ClinVar=VCV001184810; Zygosity=Heterozygous (PubMed=37595341).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201585; Deafness, autosomal dominant 58
DI   ORDO; Orphanet_90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37595341; DOI=10.1016/j.scr.2023.103181;
RA   Kobayashi G.S., Vieira-Silva G.A., Varella-Branco E., Moreira D.P.,
RA   Kitajima J.P.F.W., Hemza C.R.M.L., Mingroni-Netto R.C., Lojudice F.H.,
RA   Oiticica J., Bento R.F., Batissoco A.C., Lezirovitz-Mandelbaum K.;
RT   "Generation of four induced pluripotent stem cells lines from PBMC of
RT   the DFNA58 family members: two hearing-impaired duplication carriers
RT   (USPi006-A and USPi007-A) and two normal-hearing noncarriers (USPi004-A
RT   and USPi005-A).";
RL   Stem Cell Res. 71:103181-103181(2023).
//