ID   NCKDi003-A
AC   CVCL_B3MT
DR   hPSCreg; NCKDi003-A
DR   Wikidata; Q110433092
RX   PubMed=34547705;
CC   From: National Center of Kidney Diseases; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2023; CLCN5; Simple; p.Thr347Pro (c.1042A>C) (p.Thr277Pro, c.829A>C); Zygosity=Unspecified (PubMed=34547705).
CC   Caution: Mutation indicated as hemizygous in title of PubMed=34547705 but this cell line is from a normal X,X female patient so it can't be hemizygous.
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   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=34547705; DOI=10.1016/j.scr.2021.102538;
RA   Hu L.-D., Wang G., Wu H.-D., Fu H.-D., Wang Y., Yu F., Liu Z.-H.,
RA   Mao J.-H.;
RT   "Establishment of an induced pluripotent stem cell line (NCKDi003-A)
RT   from a patient with X-linked Dent disease (X-Dent) carrying the
RT   hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.";
RL   Stem Cell Res. 56:102538-102538(2021).
//