ID   JUFMDOi007-A
AC   CVCL_D0GY
SY   UP007
DR   BioSamples; SAMEA112896423
DR   hPSCreg; JUFMDOi007-A
DR   Wikidata; Q123032775
RX   PubMed=37099934;
CC   From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.AspValCys636_638ValThrGly (c.1907_1912ATGTTT>TCACAG); Zygosity=Heterozygous (PubMed=37099934).
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Leu2276fs*12 (c.8328_8329delAA); Zygosity=Heterozygous (PubMed=37099934).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37099934; DOI=10.1016/j.scr.2023.103100;
RA   Ukaji T., Takahashi-Shibata M., Arai D., Tsutsumi H., Tajima S.,
RA   Akamatsu W., Matsumoto F., Ikeda K., Usami S.-i., Kamiya K.;
RT   "Generation and characterization of a human iPSC line (JUFMDOi007-A)
RT   from a patient with Usher syndrome due to mutation in USH2A.";
RL   Stem Cell Res. 69:103100-103100(2023).
//