ID   CMCi011-A
AC   CVCL_D0D4
SY   CMC-DENT-001
DR   BioSamples; SAMEA112370824
DR   hPSCreg; CMCi011-A
DR   Wikidata; Q123030942
RX   PubMed=37356184;
CC   From: The Catholic University of Korea; Seoul; South Korea.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 2023; CLCN5; Simple; c.1347+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=37356184).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123260; Dent disease
DI   ORDO; Orphanet_93622; Dent disease type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37356184; DOI=10.1016/j.scr.2023.103140;
RA   Fang X.-Y., Kim J.H., Cui S., Shin Y.J., Lee H., Ko E.J., Cheong H.I.,
RA   Kim S., Kim H.S., Kim M., Yang C.W., Lim S.W., Chung B.H.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   patient with dent disease.";
RL   Stem Cell Res. 71:103140-103140(2023).
//