ID   KSCBi010-A
AC   CVCL_WR22
SY   DKH005i-A; DHK-005iA; DKHi005-A
DR   BioSamples; SAMEA5892403
DR   GEO; GSM4972453
DR   hPSCreg; KSCBi010-A
DR   SKIP; SKIP005591
DR   Wikidata; Q95980264
RX   PubMed=31734643;
RX   PubMed=33714852;
CC   From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 18340; WDR19; Simple; p.Arg1178Glu (c.3533G>A); Zygosity=Homozygous (PubMed=31734643).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168588; Senior-Loken syndrome
DI   ORDO; Orphanet_3156; Senior-Loken syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31734643; DOI=10.1016/j.scr.2019.101648;
RA   Park H., Han J., Lee Y., Kwak S., Koo S.K.;
RT   "Generation of human induced pluripotent stem cells from peripheral
RT   blood mononuclear cells of a Senior-Loken syndrome patient.";
RL   Stem Cell Res. 41:101648-101648(2019).
//
RX   PubMed=33714852; DOI=10.1016/j.scr.2021.102270;
RA   Kim J.-H., Jo H.-Y., Ha H.-Y., Kim Y.-O.;
RT   "Korea National Stem Cell Bank.";
RL   Stem Cell Res. 53:102270-102270(2021).
//