ID   JUFMDOi004-A
AC   CVCL_YM40
SY   GP004
DR   hPSCreg; JUFMDOi004-A
DR   SKIP; SKIP005606
DR   Wikidata; Q94332577
RX   PubMed=31926383;
CC   From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Homozygous (PubMed=31926383).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129022; Deafness, autosomal recessive 1A
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31926383; DOI=10.1016/j.scr.2019.101674;
RA   Fukunaga I., Shiga T., Chen C., Oe Y., Danzaki K., Ohta S.,
RA   Matsuoka R., Anzai T., Hibiya-Motegi R., Tajima S., Ikeda K.,
RA   Akamatsu W., Kamiya K.;
RT   "Generation of the induced pluripotent stem cell (hiPSC) line
RT   (JUFMDOi004-A) from a patient with hearing loss carrying GJB2
RT   (p.V37I) mutation.";
RL   Stem Cell Res. 43:101674-101674(2020).
//