ID   KSCBi011-A
AC   CVCL_WR23
SY   DKH090i-A; DHK-090iA; DKHi090-A
DR   BioSamples; SAMEA5892784
DR   GEO; GSM4972454
DR   hPSCreg; KSCBi011-A
DR   SKIP; SKIP005692
DR   Wikidata; Q95980266
RX   PubMed=32036247;
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; 17877; NMNAT1; Simple; p.Arg237Cys (c.709C>T); ClinVar=VCV000845745; Zygosity=Homozygous (PubMed=32036247).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32036247; DOI=10.1016/j.scr.2020.101725;
RA   Park H., Han J., Lee Y., Kwak S., Koo S.K.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   patient with Leber congenital amaurosis.";
RL   Stem Cell Res. 43:101725-101725(2020).
//
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).
//