ID   UMi040-A
AC   CVCL_B7CI
SY   SB162-284 cl.1
DR   BioSamples; SAMEA13260017
DR   hPSCreg; UMi040-A
DR   Wikidata; Q112930519
RX   PubMed=35364395;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 28472; TMEM43; Simple; p.Arg372Ter (c.1114C>T); ClinVar=VCV000403555; Zygosity=Heterozygous (PubMed=35364395).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C116364; Auditory neuropathy spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35364395; DOI=10.1016/j.scr.2022.102758;
RA   Tang P.-C., Roche M.V., Um S.Y., Gosstola N.C., Kim M.Y., Choi B.Y.,
RA   Dykxhoorn D.M., Liu X.-Z.;
RT   "Characterization of an induced pluripotent stem cell line (UMi040-A)
RT   bearing an auditory neuropathy spectrum disorder-associated variant in
RT   TMEM43.";
RL   Stem Cell Res. 61:102758-102758(2022).
//