ID   KLRMMEi002-A
AC   CVCL_B6RR
SY   XT142-iPS
DR   BioSamples; SAMEA11644680
DR   hPSCreg; KLRMMEi002-A
DR   Wikidata; Q111733553
RX   PubMed=35152177;
CC   From: Key Laboratory for Regenerative Medicine of Ministry of Education, Jinan University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:12601; USH2A; Simple; c.8559-2A>G (p.Tyr2854_Arg2894del); ClinVar=VCV000048604; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=35152177).
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   42Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35152177; DOI=10.1016/j.scr.2022.102699;
RA   Liang L.-Y., Xue Y.-X., Su C.-Y., Wang J.-N., Chen L.-Y., Su T.,
RA   Ke J.-Y., Xie L.-Y., Cui Z.-K., Yu Q., Chan H.-F., Zhong J.-X.,
RA   Guo Y.-L., Chen J.-S.;
RT   "Establishment of iPS cell line (KLRMMEi002-A) by reprogramming
RT   peripheral blood mononuclear cells from a patient with
RT   USH2A-associated Usher syndrome.";
RL   Stem Cell Res. 60:102699-102699(2022).
//