ID   JUFMDOi002-A
AC   CVCL_YM38
SY   GC002
DR   hPSCreg; JUFMDOi002-A
DR   Wikidata; Q94332563
RX   PubMed=33780732;
CC   From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Gly45Glu (c.134G>A); ClinVar=VCV000017033; Zygosity=Heterozygous (PubMed=33780732).
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Tyr136Ter (c.408C>A); ClinVar=VCV000189092; Zygosity=Heterozygous (PubMed=33780732).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33780732; DOI=10.1016/j.scr.2021.102290;
RA   Fukunaga I., Oe Y., Danzaki K., Ohta S., Chen C., Iizumi M., Shiga T.,
RA   Matsuoka R., Anzai T., Hibiya-Motegi R., Tajima S., Ikeda K.,
RA   Akamatsu W., Kamiya K.;
RT   "Generation of two iPSC lines from siblings of a homozygous patient
RT   with hearing loss and a heterozygous carrier with normal hearing
RT   carrying p.G45E/Y136X mutation in GJB2.";
RL   Stem Cell Res. 53:102290-102290(2021).
//