ID   KLRMMEi001-A
AC   CVCL_VE03
SY   CJ127-iPS
DR   BioSamples; SAMEA104626790
DR   hPSCreg; KLRMMEi001-A
DR   Wikidata; Q54900031
RX   PubMed=29660607;
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; p.Pro3043del (c.9127_9129delTCC); ClinVar=VCV000556050; Zygosity=Homozygous (PubMed=29660607).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
ST   Source(s): PubMed=29660607
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 12
ST   D16S539: 9
ST   D21S11: 29,32
ST   D5S818: 10,13
ST   D7S820: 9,10
ST   TH01: 7
ST   TPOX: 8
ST   vWA: 14,18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29660607; DOI=10.1016/j.scr.2018.03.022;
RA   Guo Y.-L., Zeng Q.-L., Liu S.-W., Yu Q., Wang P.-Y., Ma H.-J.,
RA   Shi S.-S., Yan X., Cui Z.-K., Xie M.-Y., Xue Y.-X., Zha Q.-B.,
RA   Li Z.-J., Zhang J., Tang S.-B., Chen J.-S.;
RT   "Generation of an iPS cell line via a non-integrative method using
RT   urine-derived cells from a patient with USH2A-associated retinitis
RT   pigmentosa.";
RL   Stem Cell Res. 29:139-142(2018).
//