ID   KLRMMEi003-A
AC   CVCL_C6QB
SY   XM146-iPS
DR   BioSamples; SAMEA112202912
DR   hPSCreg; KLRMMEi003-A
DR   Wikidata; Q117704573
RX   PubMed=36863132;
CC   From: Key Laboratory for Regenerative Medicine of Ministry of Education, Jinan University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; c.8559-2A>G (p.Tyr2854_Arg2894del); ClinVar=VCV000048604; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=36863132).
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   46Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36863132; DOI=10.1016/j.scr.2023.103055;
RA   Chen L.-Y., Wang J.-N., Yang T.-T., Xie L.-Y., Cui Z.-K., Yu Q.,
RA   Zhong J.-X., Chan H.-F., Xue Y.-X., Guo Y.-L., Chen J.-S.;
RT   "Establishment of iPS cell line (KLRMMEi003-A) from a patient with
RT   Usher syndrome due to USH2A mutation.";
RL   Stem Cell Res. 68:103055-103055(2023).
//